PT  - JOURNAL ARTICLE
AU  - A E Harding
AU  - J V Diengdoh
AU  - A J Lees
TI  - Autosomal recessive late onset multisystem disorder with cerebellar cortical atrophy at necropsy: report of a family.
AID  - 10.1136/jnnp.47.8.853
DP  - 1984 Aug 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 853--856
VI  - 47
IP  - 8
4099  - http://jnnp.bmj.com/content/47/8/853.short
4100  - http://jnnp.bmj.com/content/47/8/853.full
SO  - J Neurol Neurosurg Psychiatry1984 Aug 01; 47
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.