Heredo-ataxia in a large Dutch pedigree. M.R.I. findings.
One segment of a large Dutch pedigree with heredo-ataxia is presented. The clinical and genetic features of the disease, together with the M.R.I. findings, indicate the diagnosis of autosomal dominant late onset olivo-ponto-cerebellar atrophy. The clinical picture remained invariant through successive generations. Emphasis is put on the diagnostic usefulness of M.R.I. technique in the absence of neuropathological data.
Vliegenthart
W E
WE
Department of Neurology, Oudenrijn Hospital, Utrecht, The Netherlands.
Vielvoye
G J
GJ
Kuyt
L P
LP
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001921:Brain / Q000473:pathology; D005260:Female; D005817:Genetic Counseling; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009426:Netherlands; D009849:Olivopontocerebellar Atrophies / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree; D010865:Pilot Projects; D013132:Spinocerebellar Degenerations / Q000175:diagnosis* / Q000235:genetics*