A non-familial Huntington's disease patient with grumose degeneration in the dentate nucleus.
We report a non-familial Huntington's disease (HD) patient presenting with increased levels of protein and IgG in his cerebrospinal fluid (CSF), antineuronal antibody in his serum and CSF, Purkinje cell and granule cell degeneration in the cerebellum, and grumose degeneration in the dentate nucleus, in addition to typical HD findings. This patient showed an expanded CAG repeat in the HD gene, and provides new information on the clinical and neuropathologic varieties of HD.
Ishikawa
A
A
Department of Neurology, Nishi-Ojiya National Hospital, Ojiya, Japan.
Oyanagi
K
K
Tanaka
K
K
Igarashi
S
S
Sato
T
T
Tsuji
S
S
D000368:Aged; D001323:Autoantibodies / Q000032:analysis; D002529:Cerebellar Nuclei / Q000473:pathology*; D006801:Humans; D006816:Huntington Disease / Q000235:genetics / Q000503:physiopathology*; D007074:Immunoglobulin G / Q000134:cerebrospinal fluid; D008297:Male; D009410:Nerve Degeneration; D009420:Nervous System / Q000276:immunology; D019680:Trinucleotide Repeat Expansion / Q000235:genetics
D001323:Autoantibodies; D007074:Immunoglobulin G