RT Journal Article
SR Electronic
T1 Autosomal recessive late onset multisystem disorder with cerebellar cortical atrophy at necropsy: report of a family.
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 853
OP 856
DO 10.1136/jnnp.47.8.853
VO 47
IS 8
A1 A E Harding
A1 J V Diengdoh
A1 A J Lees
YR 1984
UL http://jnnp.bmj.com/content/47/8/853.abstract
AB A sister and brother developed a progressive syndrome comprising bulbar palsy, supranuclear ophthalmoplegia, facial impassivity, and cerebellar ataxia together with a mixed pyramidal and extrapyramidal deficit in the limbs, in the fourth decade of life. Their parents were unaffected and inheritance was probably autosomal recessive. The female patient, who presented initially with bulbar and extrapyramidal dysfunction, was found to have cerebellar cortical atrophy at necropsy. The basal ganglia and brainstem were normal.