title: Dominantly inherited leukodystrophy showing cerebellar deficits and spastic paraparesis: a new entity?
abstract: We studied a dominant hereditary disorder showing progressive spastic paraparesis. The symptoms began in early childhood, with cerebellar deficits and mild mental deterioration, and the subsequent appearance of limb spasticity resulted in severe disability in the 3rd-4th decades of life. None of the patients were associated with any somatic abnormalities. Brain MRI showed diffuse white-matter involvement in all affected patients, but not in unaffected siblings. Although dominant, recessive, or X-linked leukodystrophies cause similar clinical features, our family did not show any known biochemical or gene deficits characteristic of these disorders. The clinical, radiological, and biochemical findings of this family are reported and suggest a possible novel genetic disorder.
authors.affiliation: Hokuyukai Neurology Hospital, Sapporo, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Fukazawa
authors.forename: H
authors.initials: H
authors.lastname: Sasaki
authors.forename: S
authors.initials: S
authors.lastname: Kikuchi
authors.forename: K
authors.initials: K
authors.lastname: Hamada
authors.forename: T
authors.initials: T
authors.lastname: Hamada
authors.forename: K
authors.initials: K
authors.lastname: Tashiro
mesh_terms: D000328:Adult; D001921:Brain / Q000473:pathology; D002526:Cerebellar Diseases / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007564:Japan; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009468:Neuromuscular Diseases / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree