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The hereditary spastic paraplegias (HSP) are a group of genetically heterogeneous disorders in which the predominant symptom is insidiously progressive, bilaterally symmetric, lower extremity spastic weakness. To date, five autosomal dominant forms, three autosomal recessive forms, and two X-linked forms of HSP have been defined.1 Autosomal recessive HSP linked to chromosome 16 is due to paraplegin gene mutation.2 Several autosomal recessive HSP subjects with paraplegin gene mutations were shown to have ragged red fibers and cytochrome c oxidase (COX)–deficient fibers consistent with mitochondrial disturbance.2 Previously, we reported that a muscle biopsy from a subject with autosomal dominant HSP linked to chromosome 8q had no evidence of mitochondrial abnormalities.3 We undertook the current investigation to determine whether mitochondrial abnormalities were common features in other types of autosomal dominant HSP linked to chromosomes 2p, 14q, and 15q.
Subjects and methods.
We identified HSP kindreds in which two-point lod scores to the chromosome 2p, 14q, or 15q exceeded 3.0. The HSP kindred linked to chromosome …
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