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Neurologist (brain, nervous system)
37 years of experience

Video profile


Education ?

Medical School Score
Stony Brook University (1975)

Awards & Distinctions ?

Southern California Super Doctors 2012
Patients' Choice Award (2015)
Compassionate Doctor Recognition (2015)
On-Time Doctor Award (2015)
Ronald Reagan Ucla Medical Center
National Ataxia Foundation
American Board of Psychiatry and Neurology

Affiliations ?

Dr. Perlman is affiliated with 4 hospitals.

Hospital Affiliations



  • UCLA Medical Center
    10833 Le Conte Ave, Los Angeles, CA 90095
    Top 25%
  • Santa Monica - UCLA Medical Center
    1250 16th St, Santa Monica, CA 90404
    Top 50%
  • Mattel Chldns Hosp. At Ucla
    10833 Le Conte Ave, Los Angeles, CA 90095
  • University of California - Ronald Reagan UCLA Medical Center
    757 Westwood Plz, Los Angeles, CA 90095
  • Publications & Research

    Dr. Perlman has contributed to 26 publications.
    Title Mortality in Friedreich Ataxia.
    Date May 2012
    Journal Journal of the Neurological Sciences

    Although cardiac dysfunction is widely accepted as the most common cause of mortality in Friedreich ataxia (FRDA), no studies have evaluated this since the advent of specific clinical and genetic diagnostic criteria.

    Title A Rapid, Noninvasive Immunoassay for Frataxin: Utility in Assessment of Friedreich Ataxia.
    Date January 2011
    Journal Molecular Genetics and Metabolism

    Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by reduced amounts of the mitochondrial protein frataxin. Frataxin levels in research studies are typically measured via Western blot analysis from patient fibroblasts, lymphocytes, or muscle biopsies; none of these is ideal for rapid detection in large scale clinical studies. Recently, a rapid, noninvasive lateral flow immunoassay was developed to accurately measure picogram levels of frataxin protein and shown to distinguish lymphoblastoid cells from FRDA carriers, patients and controls. We expanded the immunoassay to measure frataxin directly in buccal cells and whole blood from a large cohort of controls, known carriers and patients typical of a clinical trial population. The assay in buccal cells shared a similar degree of variability with previous studies conducted in lymphoblastoid cells (~10% coefficient of variation in controls). Significant differences in frataxin protein quantity were seen between the mean group values of controls, carriers, and patient buccal cells (100, 50.2, and 20.9% of control, respectively) and in protein extracted from whole blood (100, 75.3, and 32.2%, respectively), although there was some overlap between the groups. In addition, frataxin levels were inversely related to GAA repeat length and correlated directly with age of onset. Subjects with one expanded GAA repeat and an identified frataxin point mutation also carried frataxin levels in the disease range. Some patients displaying an FRDA phenotype but carrying only a single identifiable mutation had frataxin levels in the FRDA patient range. One patient from this group has a novel deletion that included exons 2 and 3 of the FXN gene based on multiplex ligation-dependent probe amplification (MLPA) analysis of the FXN gene. The lateral flow immunoassay may be a useful means to noninvasively assess frataxin levels repetitively with minimal discomfort in FRDA patients in specific situations such as clinical trials, and as a complementary diagnostic tool to aid in identification and characterization of atypical patients.

    Title A Phase 3, Double-blind, Placebo-controlled Trial of Idebenone in Friedreich Ataxia.
    Date September 2010
    Journal Archives of Neurology

    To assess the efficacy of idebenone on neurological function in patients with Friedreich ataxia.

    Title Patterns of Fractional Anisotropy Changes in White Matter of Cerebellar Peduncles Distinguish Spinocerebellar Ataxia-1 from Multiple System Atrophy and Other Ataxia Syndromes.
    Date October 2009
    Journal Neuroimage

    To determine prospectively if qualitative and quantitative diffusion tensor imaging (DTI) metrics of white matter integrity are better than conventional magnetic resonance imaging (MRI) metrics for discriminating cerebellar diseases.

    Title Antioxidant Use in Friedreich Ataxia.
    Date June 2008
    Journal Journal of the Neurological Sciences

    Many antioxidants have been suggested as potential treatments for Friedreich ataxia, but have not been tested in clinical trials. We found that a majority of patients in our cohort already use such antioxidants, including idebenone, which is not available at a pharmaceutical grade in the United States. Younger age, cardiomyopathy and shorter GAA repeat length were independent predictors of idebenone use, but no factors predicted use of other antioxidants. This confirms that non-prescription antioxidant use represents a major confounder to formal trials of existing and novel agents for Friedreich ataxia.

    Title Ataxias.
    Date December 2006
    Journal Clinics in Geriatric Medicine

    Gait disorders in elderly individuals are a major cause of falls and their attendant morbidities. Ataxia is one of the neurologic components of fall risk, as are inattention or confusion, visual impairment, vestibular impairment, subcortical white matter disease, parkinsonism, weakness, sensory loss, orthostasis or arrhythmia with alterations in blood pressure, pain, medication use, and environmental hazards. Ataxia in the geriatric population has many causes. Correctly identifying them can improve clinicians' ability to offer treatment and management strategies to patients and their families. The goals should be safe mobility and preserved activities of daily living.

    Title Histone Deacetylase Inhibitors Reverse Gene Silencing in Friedreich's Ataxia.
    Date November 2006
    Journal Nature Chemical Biology

    Expansion of GAA x TTC triplets within an intron in FXN (the gene encoding frataxin) leads to transcription silencing, forming the molecular basis for the neurodegenerative disease Friedreich's ataxia. Gene silencing at expanded FXN alleles is accompanied by hypoacetylation of histones H3 and H4 and trimethylation of histone H3 at Lys9, observations that are consistent with a heterochromatin-mediated repression mechanism. We describe the synthesis and characterization of a class of histone deacetylase (HDAC) inhibitors that reverse FXN silencing in primary lymphocytes from individuals with Friedreich's ataxia. We show that these molecules directly affect the histones associated with FXN, increasing acetylation at particular lysine residues on histones H3 and H4 (H3K14, H4K5 and H4K12). This class of HDAC inhibitors may yield therapeutics for Friedreich's ataxia.

    Title Genome-wide Significance for a Modifier of Age at Neurological Onset in Huntington's Disease at 6q23-24: the Hd Maps Study.
    Date October 2006
    Journal Bmc Medical Genetics

    BACKGROUND: Age at onset of Huntington's disease (HD) is correlated with the size of the abnormal CAG repeat expansion in the HD gene; however, several studies have indicated that other genetic factors also contribute to the variability in HD age at onset. To identify modifier genes, we recently reported a whole-genome scan in a sample of 629 affected sibling pairs from 295 pedigrees, in which six genomic regions provided suggestive evidence for quantitative trait loci (QTL), modifying age at onset in HD. METHODS: In order to test the replication of this finding, eighteen microsatellite markers, three from each of the six genomic regions, were genotyped in 102 newly recruited sibling pairs from 69 pedigrees, and data were analyzed, using a multipoint linkage variance component method, in the follow-up sample and the combined sample of 352 pedigrees with 753 sibling pairs. RESULTS: Suggestive evidence for linkage at 6q23-24 in the follow-up sample (LOD = 1.87, p = 0.002) increased to genome-wide significance for linkage in the combined sample (LOD = 4.05, p = 0.00001), while suggestive evidence for linkage was observed at 18q22, in both the follow-up sample (LOD = 0.79, p = 0.03) and the combined sample (LOD = 1.78, p = 0.002). Epistatic analysis indicated that there is no interaction between 6q23-24 and other loci. CONCLUSION: In this replication study, linkage for modifier of age at onset in HD was confirmed at 6q23-24. Evidence for linkage was also found at 18q22. The demonstration of statistically significant linkage to a potential modifier locus opens the path to location cloning of a gene capable of altering HD pathogenesis, which could provide a validated target for therapeutic development in the human patient.

    Title Relative Atrophy of the Flocculus and Ocular Motor Dysfunction in Sca2 and Sca6.
    Date September 2006
    Journal Annals of the New York Academy of Sciences

    Two hereditary ataxia syndromes show distinct profiles of region-specific atrophy and ocular motor deficits. Selective pontine atrophy is associated with slowed saccades in ataxin-2 mutations, and selective floccular atrophy is associated with impaired pursuit and gaze-holding abnormalities in Ca(V)2.1 mutations. Although the flocculus seems to be spared relative to the pons in ataxin-2 mutations, and pursuit and gaze-holding appear to be relatively normal, these can be difficult to assess at the bedside, as corrective saccades are also slow and hard to discern. Here, we show the presence of significant floccular atrophy compared with controls in both ataxin-2 and Ca(V)2.1 mutations, which raises the possibility that abnormalities of smooth pursuit or gaze-holding are present in both conditions.

    Title Pontine and Cerebellar Atrophy Correlate with Clinical Disability in Sca2.
    Date May 2006
    Journal Neurology

    Spinocerebellar ataxia type 2 (SCA2) has protean manifestations, and a clinical marker of progression is needed. Although MRI is a promising tool, it is unclear whether the degree of atrophy shown on MRI is correlated with clinical dysfunction. Here the authors used high-resolution volumetric MRI analysis to show that cerebellar and pontine volumes specifically and closely correlate with functional staging scores.

    Title Late-onset Friedreich Ataxia: Phenotypic Analysis, Magnetic Resonance Imaging Findings, and Review of the Literature.
    Date January 2006
    Journal Archives of Neurology

    BACKGROUND: Friedreich ataxia (FA), the most common hereditary ataxia, is caused by pathological expansion of GAA repeats in the first intron of the X25 gene on chromosome 9. Since the discovery of the gene, atypical features are increasingly recognized in individuals with FA, and up to 25% of patients with recessive or sporadic ataxia do not fulfill the Harding or Quebec Cooperative Study on Friedreich's Ataxia criteria for FA. Late-onset FA (LOFA) is defined as onset after age 25 years. OBJECTIVES: To describe and further delineate the clinical and magnetic resonance imaging findings in patients with LOFA and to review the literature. DESIGN: Clinical evaluation and comparison of clinical data and investigations. SETTING: Ataxia clinics at UCLA and Cedars-Sinai Medical Center. PATIENTS: Thirteen patients with LOFA with 13 sex-matched and Inherited Ataxia Progression Scale-matched patients with typical FA. RESULTS: Gait and limb ataxias were seen in all the participants. Dysarthria, loss of vibration sense, and abnormal eye movements were also common in both groups. Patients with LOFA more often had lower limb spasticity (40% vs 0%; chi2 = 4.0; P = .04) and retained reflexes (46.1% vs 7.7%; chi2 = 3.46; P = .05). They had no complaint of sphincter disturbances, and there was no evidence of cardiomyopathy on echocardiograms (chi2 = 4.0; P = .04). Five of 9 patients with LOFA had cerebellar atrophy on neuroimaging. CONCLUSIONS: Patients with gait and limb ataxias, dysarthria, loss of vibration sense, and fixational instability after age 25 years should be considered for molecular testing for GAA expansion in the FA gene. In contrast to previous studies, cerebellar vermian atrophy is not an uncommon finding.

    Title Symptomatic and Disease-modifying Therapy for the Progressive Ataxias.
    Date February 2005
    Journal The Neurologist

    BACKGROUND: The progressive ataxias are a diverse group of neurologic diseases that share features of degeneration of the cerebellum and its inflow/outflow pathways but differ in etiology, course, and associated noncerebellar system involvement. Some will have treatable causes, but for most, the pathophysiology is incompletely known. REVIEW SUMMARY: Treatment strategies will include (1) definitive therapy when available, (2) symptomatic treatment and prevention of complications, and (3) rehabilitation and support resources. The physician will have to decide whether to introduce or approve the use of therapies based on as yet-unproven mechanisms or the use of complementary medicine approaches. CONCLUSIONS: There are as yet no drugs that have been approved by the Food and Drug Administration for the treatment of the progressive ataxias and relatively few disease-modifying therapies, but symptomatic and rehabilitation interventions can greatly improve the quality of life of individuals with these disabling neurodegenerative disorders.

    Title Spinocerebellar Degeneration.
    Date December 2003
    Journal Expert Opinion on Pharmacotherapy

    The spinocerebellar degenerations/ataxias (SCAs) are a diverse group of rare, slowly progressive, neurological diseases, often inherited but of incompletely understood pathophysiology, which affect the cerebellum and its related pathways. They have few animal models and share no reliable biomarkers. They have, as yet, no universally validated rating scale for use in clinical trials. In the past 25 years, there have been, at most, 18 controlled (Class 1) trials for ataxia, which have focused on neurotransmitter mechanisms. There is currently only one National Institute of Neurological Disorders and Stroke-sponsored drug trial for ataxia (Phase I study of idebenone in Friedreich's ataxia). There are, as yet, no FDA-approved drugs for SCA. Current treatment practices encompass rehabilitation interventions and off-label use of symptomatic medications [1,2].

    Title Late-onset Tay-sachs Disease As a Friedreich Ataxia Phenocopy.
    Date December 2002
    Journal Archives of Neurology
    Title Spinocerebellar Degenerations: an Update.
    Date November 2002
    Journal Current Neurology and Neuroscience Reports

    Over the past decade, the spinocerebellar degenerations have gone from a diverse group of loosely defined phenotypes to a family of diseases with many identifiable genotypes and the promise of gene-specific treatments. The evaluation of the spinocerebellar ataxias has been simplified, and the counseling of patients and families has been enhanced by the growing number of molecular diagnostic tests now available. Management strategies remain symptomatic and focused on rehabilitation, with empirical use of antioxidants based on research in other neurogenetic diseases.

    Title Association of Moderate Polyglutamine Tract Expansions in the Slow Calcium-activated Potassium Channel Type 3 with Ataxia.
    Date October 2001
    Journal Archives of Neurology

    BACKGROUND: The small-conductance calcium-activated potassium channel gene (hSKCa3) contains 2 CAG repeats, 1 of which is highly polymorphic. Although this repeat is not pathologically expanded in patients with schizophrenia, some studies have suggested an allelic association with schizophrenia. CAG expansions in other genes such as the alpha1 subunit of a brain-specific P/Q-type calcium channel gene cause spinocerebellar ataxia type 6, whereas the length of the CAG repeat in the RAI1 gene modifies the age of onset of spinocerebellar ataxia type 2. OBJECTIVES: To evaluate expansions in the hSKCa3 polyglutamine domain as causative for ataxia, and to study the association between the length of the polyglutamine repeat and the presence of ataxia. METHODS: We analyzed this repeat in 122 patients with autosomal dominant cerebellar ataxia, or sporadic ataxia, and compared allele distribution with 750 alleles seen in 2 healthy control groups and 172 alleles in patients with Parkinson disease. RESULTS: The distribution of alleles in ataxia patients and controls was significantly different by Wilcoxon rank test (P <.001). Twenty-two or more polyglutamine tracts were more common in ataxia patients compared with controls by chi2 analysis (P<.001). CONCLUSION: Longer stretches of polyglutamines in a human potassium channel are not causative for ataxia, but they are associated with the presence of ataxia. There is no association with the presence of Parkinson disease.

    Title Spinocerebellar Ataxia Type 6: Gaze-evoked and Vertical Nystagmus, Purkinje Cell Degeneration, and Variable Age of Onset.
    Date January 1998
    Journal Annals of Neurology

    Spinocerebellar ataxia type 6 (SCA6) was recently identified as a form of autosomal dominant cerebellar ataxia associated with small expansions of the trinucleotide repeat (CAG)n in the gene CACNL1A4 on chromosome 19p13, which encodes the alpha1 subunit of a P/Q-type voltage-gated calcium channel. We describe clinical, genetic, neuroimaging, neuropathological, and quantitative oculomotor studies in four kindreds with SCA6. We found strong genetic linkage of the disease to the CACNL1A4 locus and strong association with the expanded (CAG)n alleles in two large ataxia kindreds. The expanded alleles were all of a single size (repeat number) within the two large kindreds, numbering 22 and 23 repeat units. It is noteworthy that the age of onset of ataxia ranged from 24 to 63 years among all affected individuals, despite the uniform repeat number. Radiographically and pathologically, there was selective atrophy of the cerebellum and extensive loss of Purkinje cells in the cerebellar cortex. In addition, clinical and quantitative measurement of extraocular movements demonstrated a characteristic pattern of ocular motor and vestibular abnormalities, including horizontal and vertical nystagmus and an abnormal vestibulo-ocular reflex. These studies identify a distinct phenotype associated with this newly recognized form of dominant SCA.

    Title Radiosensitivity of Ataxia-telangiectasia, X-linked Agammaglobulinemia, and Related Syndromes Using a Modified Colony Survival Assay.
    Date June 1994
    Journal Cancer Research

    We used a modified colony survival assay to measure the sensitivity to ionizing radiation of more than 50 lymphoblastoid cell lines from normal individuals and from patients with ataxia-telangiectasia, Nijmegen breakage syndrome variants, and X-linked agammaglobulinemia. All of these disorders are associated with an increased frequency of cancer. Lymphoblastoid cell lines from patients with ataxia-telangiectasia complementation groups A, C, D, and E; ATFresno; Nijmegen breakage syndrome variants V1 and V2; and X-linked agammaglobulinemia showed marked radiosensitivity, whereas ataxia-telangiectasia heterozygotes were similar to controls. Friedreich's ataxia is not associated with increased cancer risk; lymphoblastoid cell lines from two such patients showed normal radiosensitivity. Taken together, these results suggest that some forms of X-ray sensitivity and cancer susceptibility share a common mechanism, such as an enzyme that is necessary both for the repair of radiation damage to DNA and for gene rearrangements during V(D)J recombination.

    Title Modern Techniques of Pain Management.
    Date March 1988
    Journal The Western Journal of Medicine

    Even clinicians who keep up with the research literature on pain mechanisms may find themselves uncertain when trying to bring these new theories down to practical application for a patient with pain. The areas of dysfunction to be attacked should be systematically outlined, a complementary set of treatments be decided on, and follow-through be done in a reasonable number of visits. Physicians must also know when to refer a patient who goes beyond their own assessment and treatment skills.

    Title The Mental Status of Patients with Friedreich's Ataxia.
    Date December 1987
    Journal The Journal of Neuroscience Nursing : Journal of the American Association of Neuroscience Nurses

    In the clinical literature, the majority of patients with Friedreich's ataxia are described as having signs of intellectual decline and serious psychiatric symptomatology. Recent studies contradict this clinical picture, but indicate some discrete mental status changes, such as slowing of information processing speed not related to motor abnormality, in a more strictly defined Friedreich's population. This study describes the mental status changes in a sample of 38 patients seen at the University of California at Los Angeles Neuropsychiatric Hospital, Ataxia Clinic. The sample was defined using strict clinical and biochemical criteria. Only one of the 38 patients showed evidence of intellectual deterioration. Ninety-two percent of the patients experienced some affective difficulty, however, ranging from major depression to normal grief. Three patients have reached their mid-forties (one is 64 years of age) without any serious mental status changes. These findings point out the importance of nurses' expecting these patients to function normally in the cognitive domain. Implications related to specific nursing interventions are discussed.

    Title Angulation of Ringed Grasping Instruments.
    Date January 1986
    Journal The Journal of Foot Surgery

    A modification of conventional needleholders with grasping rings is presented. It consists of providing a 30 degree angulation of the rings to the body of the instrument, 1 cm. distal to the ratchet. The net effects are ease of grasping the instrument from the tray, increased comfort for both right- and left-handed surgeons, better visibility, and increased effectiveness in encompassing more tissue deeply for better wound edge eversion.

    Title Perforation of Adson-type Forceps.
    Date January 1986
    Journal Plastic and Reconstructive Surgery
    Title Evoked Potential Abnormalities in the Various Inherited Ataxias.
    Date April 1983
    Journal Annals of Neurology

    Visual (VEP), brainstem auditory (BAEP), and somatosensory (SEP) evoked potential tests were performed in 45 patients representing ten types of inherited disorders in which ataxia was the most prominent symptom. Comparable VEP abnormalities were present among all types of patients. Normal BAEP tests were recorded in most patients except those with olivopontocerebellar atrophy. SEP results were often more severely abnormal in patients with Friedreich's ataxia. The observations emphasize the similarity in expression of different metabolic-degenerative disorders. When these tests are used clinically, certain features of evoked potentials (especially left-right symmetry) are typical of the inherited ataxias as a group. Few distinguishing features differentiate the individual disorders.

    Title Optimal Conditions for the Assay of Lipoamide Dehydrogenase in Homogenized Human Platelets.
    Date August 1982
    Journal Clinica Chimica Acta; International Journal of Clinical Chemistry

    Widely different method have been used to assay lipoamide dehydrogenase in tissues from patients with neurological diseases. We have re-examined conditions of assay in homogenized human platelets in the light of results of optimal and inhibitory conditions others have found for the purified pig and rat liver enzymes. Optimal conditions in homogenized platelets for the forward, physiological direction were pH 8.0, 2-4 mmol/l dihydrolipoamide and 1.6-2 mmol/l NAD+ and for the reverse reaction, pH 7.3, 1.2-2 mmol/l lipoamide and 0.125-0.2 mmol/l NADH. Km values by the Lineweaver-Burke method were approximately 420 mumol/l dihydrolipoamide, 180 mumol/l NAD+, 600 mumol/l lipoamide and 27 mumol/l NADH. The optimal conditions and Km values are similar to those reported for the purified pig and rat enzymes. Assays by the present methods should therefore reflect the activity of lipoamide dehydrogenase and not the effects of substrate or cofactor inhibition nor the effects of other, interfering enzyme activities.

    Title Cerebellar Ataxia.
    Journal Current Treatment Options in Neurology

    There is nothing more discouraging than for a patient to be given a specific diagnosis, then to be told that there is nothing that can be done. Physicians are equally disheartened to see exponential progress being made in the understanding of the pathophysiology of a complex disorder but few direct benefits resulting for their patients. Over the past 5 years, molecular genetic research has completely revolutionized the way in which the progressive cerebellar ataxias are classified and diagnosed, but it has yet to produce effective gene-based, neuroprotective, or neurorestorative therapies. The treatment of cerebellar ataxia remains primarily a neurorehabilitation challenge, employing physical, occupational, speech, and swallowing therapy; adaptive equipment; driver safety training; and nutritional counseling. Modest additional gains are seen with the use of medications that can improve imbalance, incoordination, or dysarthria (amantadine, buspirone, acetazolamide); cerebellar tremor (clonazepam, propranolol); and cerebellar or central vestibular nystagmus (gabapentin, baclofen, clonazepam). Many of the progressive cerebellar syndromes have associated features involving other neurologic systems (eg, spasticity, dystonia or rigidity, resting or rubral tremor, chorea, motor unit weakness or fatigue, autonomic dysfunction, peripheral or posterior column sensory loss, neuropathic pain or cramping, double vision, vision and hearing loss, dementia, and bowel, bladder, and sexual dysfunction), which can impede the treatment of the ataxic symptoms or can worsen with the use of certain drugs. Treatment of the associated features themselves may in turn worsen the ataxia either directly (as side effects of medication) or indirectly (eg, relaxation of lower limb spasticity that was acting as a stabilizer for an ataxic gait). Secondary complications of progressive ataxia can include deconditioning or immobility, weight loss or gain, skin breakdown, recurrent pulmonary and urinary tract infections, aspiration, occult respiratory failure, and obstructive sleep apnea, all of which can be life threatening. Depression in the patient and family members is common. Although no cures exist for most of the causes of cerebellar ataxia and there are as yet no proven ways to protect neurons from premature cell death or to restore neuronal populations that have been lost, symptomatic treatment can greatly improve the quality of life of these patients and prevent complications that could hasten death. Supportive interventions should always be offered-- education about the disease itself, genetic counseling, individual and family counseling, referral to support groups and advocacy groups, and guidance to online resources. Misinformation, fear, depression, hopelessness, isolation, and financial and interpersonal stress can often cause more harm to the patient and caregiver than the ataxia itself.

    Title Mri Shows a Region-specific Pattern of Atrophy in Spinocerebellar Ataxia Type 2.
    Journal Cerebellum (london, England)

    In this study, we used manual delineation of high-resolution magnetic resonance imaging (MRI) to determine the spatial and temporal characteristics of the cerebellar atrophy in spinocerebellar ataxia type 2 (SCA2). Ten subjects with SCA2 were compared to ten controls. The volume of the pons, the total cerebellum, and the individual cerebellar lobules were calculated via manual delineation of structural MRI. SCA2 showed substantial global atrophy of the cerebellum. Furthermore, the degeneration was lobule specific, selectively affecting the anterior lobe, VI, Crus I, Crus II, VIII, uvula, corpus medullare, and pons, while sparing VIIB, tonsil/paraflocculus, flocculus, declive, tuber/folium, pyramis, and nodulus. The temporal characteristics differed in each cerebellar subregion: (1) duration of disease: Crus I, VIIB, VIII, uvula, corpus medullare, pons, and the total cerebellar volume correlated with the duration of disease; (2) age: VI, Crus II, and flocculus correlated with age in control subjects; and (3) clinical scores: VI, Crus I, VIIB, VIII, corpus medullare, pons, and the total cerebellar volume correlated with clinical scores in SCA2. No correlations were found with the age of onset. Our extrapolated volumes at the onset of symptoms suggest that neurodegeneration may be present even during the presymptomatic stages of disease. The spatial and temporal characteristics of the cerebellar degeneration in SCA2 are region specific. Furthermore, our findings suggest the presence of presymptomatic atrophy and a possible developmental component to the mechanisms of pathogenesis underlying SCA2. Our findings further suggest that volumetric analysis may aid in the development of a non-invasive, quantitative biomarker.

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