A clinical, genetic, and neuropathologic study in a family with 16q-linked ADCA type III.
Presented is the new kindred with autosomal dominant cerebellar ataxia linked to chromosome 16q22.1 (16q-ADCA type III) associated with progressive hearing loss. By haplotype analysis, the critical interval was slightly narrowed to three megabase regions between GATA01 and D16S3095. Neuropathologic study of 16q-ADCA type III demonstrated characteristic shrinkage of Purkinje cell bodies surrounded by synaptophysin-immunoreactive amorphous material containing calbindin- and ubiquitin-positive granules.
Owada
K
K
Department of Neurology and Neurological Science, Graduate School, Tokyo Medical and Dental University, 1-5-45 Yushima, Tokyo, Japan.
Ishikawa
K
K
Toru
S
S
Ishida
G
G
Gomyoda
M
M
Tao
O
O
Noguchi
Y
Y
Kitamura
K
K
Kondo
I
I
Noguchi
E
E
Arinami
T
T
Mizusawa
H
H
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D002524:Cerebellar Ataxia / Q000235:genetics* / Q000473:pathology; D002648:Child; D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003051:Cochlea / Q000503:physiopathology; D004252:DNA Mutational Analysis; D018450:Disease Progression; D005260:Female; D020234:Gait Ataxia / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D005799:Genes, Dominant; D005819:Genetic Markers / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics; D005820:Genetic Testing; D034381:Hearing Loss / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007564:Japan; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011689:Purkinje Cells / Q000378:metabolism / Q000473:pathology
D005819:Genetic Markers