Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: A clinical diagnosis is desirable

Journal of the Neurological Sciences

Volumn 264, Issue 1-2, 2008, Pages 173-176

  Gupta, Surya N ^a   Marks, Harold G ^b  

^a TEMPLE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b DREXEL UNIVERSITY COLLEGE OF MEDICINE   (United States)

Author keywords

Cerebellar ataxia; Electroretinography; Kearns Sayre syndrome; Retinal dystrophy; Spinocerebellar ataxia type 7; Trinucleotide CAG repeats

Indexed keywords

ATAXIN 7; TRINUCLEOTIDE;

ADOLESCENT; ALLELE; ARTICLE; CASE REPORT; CAUSE OF DEATH; CEREBELLUM ATROPHY; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DNA DETERMINATION; DYSPHAGIA; ELECTROCARDIOGRAPHY; ELECTRORETINOGRAPHY; EVOKED VISUAL RESPONSE; FAMILY HISTORY; GENE REARRANGEMENT; GENETIC ANALYSIS; GRAY MATTER; HUMAN; KEARNS SAYRE SYNDROME; LABORATORY TEST; LUNG DISEASE; MALE; NEUROOPHTHALMOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; OPHTHALMOPLEGIA; PHYSICAL EXAMINATION; PONS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SPASTICITY; SPINOCEREBELLAR DEGENERATION; STOMACH TUBE; THYROID FUNCTION; TRINUCLEOTIDE REPEAT; VISUAL IMPAIRMENT; WHITE MATTER;

ADOLESCENT; BLINDNESS; CEREBELLUM; DEGLUTITION DISORDERS; DIAGNOSIS, DIFFERENTIAL; DIAGNOSTIC ERRORS; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ELECTRORETINOGRAPHY; FATAL OUTCOME; GAIT DISORDERS, NEUROLOGIC; GENETIC MARKERS; HUMANS; KEARNS-SAYER SYNDROME; MAGNETIC RESONANCE IMAGING; MALE; NERVE TISSUE PROTEINS; PONS; RETINITIS PIGMENTOSA; SPINOCEREBELLAR ATAXIAS; TRINUCLEOTIDE REPEATS;

EID: 36549018984     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2007.07.023     Document Type: Article

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