Hereditary ataxia with sensory neuronopathy: Biemond's ataxia.
We report the case of a man with late-onset hereditary ataxia and sensory loss. Three of his sisters were affected by a similar disorder; to date no other members of his family have developed symptoms. The clinical features of this family are similar to a rare form of autosomal dominant hereditary ataxia, recently classified as SCA4. Postmortem findings indicate that this syndrome is marked by degeneration of cerebellar Purkinje cells, dorsal root sensory ganglion neurons, and the ascending posterior columns. Similar clinical and pathologic findings were reported by Biemond in 1954.
Nachmanoff
D B
DB
Department of Pathology, Brigham and Women's Hospital, Boston, MA 02115, USA.
Segal
R A
RA
Dawson
D M
DM
Brown
R B
RB
De Girolami
U
U
D000328:Adult; D001921:Brain / Q000473:pathology; D002102:Cadaver; D002493:Central Nervous System Diseases / Q000150:complications* / Q000473:pathology*; D005260:Female; D006801:Humans; D008297:Male; D012678:Sensation Disorders / Q000150:complications* / Q000473:pathology*; D013116:Spinal Cord / Q000473:pathology; D013132:Spinocerebellar Degenerations / Q000145:classification / Q000150:complications* / Q000473:pathology*