Spinocerebellar ataxia type 7: Clinical course, phenotype-genotype correlations, and neuropathology

Cerebellum

Volumn 12, Issue 2, 2013, Pages 176-193

  Horton, Laura C ^a   Frosch, Matthew P ^a   Vangel, Mark G ^a   Weigel Difranco, Carol ^b   Berson, Eliot L ^b   Schmahmann, Jeremy D ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

Author keywords

Ataxia; Cerebellum; Electroretinography; Pathology; Trinucleotide repeat expansion

Indexed keywords

BIOLOGICAL MARKER;

ADULT; ARTICLE; AUTOPSY; BRIEF ATAXIA RATING SCALE; CAG REPEAT; CEREBELLUM CORTEX; CEREBELLUM NUCLEUS; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DORSAL ROOT; DYSARTHRIA; DYSMETRIA; ELECTRORETINOGRAM; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERREFLEXIA; INFERIOR OLIVE; NEUROIMAGING; NEUROLOGIC EXAMINATION; NEUROPATHOLOGY; OCULOMOTOR NERVE DISEASE; ONSET AGE; OPHTHALMOSCOPY; PIGMENT DISORDER; PRESCHOOL CHILD; PRIORITY JOURNAL; RATING SCALE; RESTLESS LEGS SYNDROME; RETINA PIGMENT DEGENERATION; SPINAL CORD DORSAL HORN; SPINAL CORD VENTRAL HORN; SPINOCEREBELLAR DEGENERATION; SPINOCEREBELLAR TRACT; VISUAL ACUITY;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; BRAIN; DIAGNOSIS; ELECTRORETINOGRAPHY; FAMILY HEALTH; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INTRANUCLEAR INCLUSION BODIES; LONGITUDINAL STUDIES; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; NEURONS; PHOTIC STIMULATION; RETROSPECTIVE STUDIES; SEVERITY OF ILLNESS INDEX; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEATS; YOUNG ADULT;

EID: 84880701323     PISSN: 14734222     EISSN: 14734230     Source Type: Journal    
DOI: 10.1007/s12311-012-0412-4     Document Type: Article

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