PMID: 8958750Aug 1, 1996Paper

A Japanese family with probably autosomal dominant adult-onset leukodystrophy

Rinshō shinkeigaku = Clinical neurology
H AsaharaT Kobayashi

Abstract

We report here a family with leukodystrophy clinical features of which are characterized as adult onset, probably autosomal dominant inheritance, hyperreflexia, cerebellar ataxia, autonomic dysfunction and no peripheral nerve involvement. T2-weighted brain MRI revealed diffuse high signal areas in the cerebral white matter. The disorder in our subjects can be distinguished from most leukodystrophies in terms of genetic inheritance, clinical manifestations and laboratory data. Our family is quite similar to the kindred which Eldridge et al. described in 1984 as "hereditary adult-onset leukodystrophy simulating chronic progressive multiple sclerosis". Our family is the third report of this type of leukodystrophy and the first among non-Irish/Scottish family.

Related Concepts

Related Feeds

Ataxia telangiectasia (MDS)

Ataxia telangiectasia is a rare neurodegenerative diseases caused by defects in the ATM gene, which is involved in DNA damage recognition and repair pathways. Here is the latest research on this autosomal recessive disease.

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.