Hereditary Spastic Paraplegia and Hereditary Ataxia: Part 2: A Family Demonstrating Various Phenotypic Manifestations With the SCA3 Genotype

摘要: Background Clinical descriptions of the dominantly inherited ataxic motor syndromes in a 7-generation family German origin were first reported 1951. Objective To provide follow-up clinical, pathological, and genetic data for 9 patients this family. Design histories neurologic findings, gross microscopic pathological features, DNA analysis. Results presentations closely followed up portion include fairly uniform upper neuron symptoms. Nystagmus was conspicuous early sign, but generational anticipation not evident. Although often present, amyotrophy major source disability. Major degeneration noted pons, spinal cord, brainstem, where ubiquitin-immunoreactive intranuclear inclusion bodies demonstrated. The diagnosis Machado-Joseph disease ( SCA3 [spinocerebellar ataxia type 3] genotype) established from autopsy tissue 1 patient blood specimens 6 others. Conclusions variation within between families with SCA1 genotypes is so broad as to make clinical criteria alone practically impossible. definition more reliable, some findings do overlap those other genotypes. our knowledge, basis phenotypic variations disease, or otherwise, has been established.