Hereditary spastic paraplegia type 15

Contributor: Gordon K. Klintworth
Hereditary spastic paraplegia type 15 (Kjellin syndrome, spastic paraplegia and retinal degeneration, OMIM # 270700) is one of a heterogeneous group of inherited disorders characterized by the development of an insidious progressive spastic weakness in the legs. This type of hereditary spastic paraplegia has an autosomal recessive mode of inheritance and the responsible gene has been mapped to human chromosome. In addition to a spastic paraplegia affected individuals undergo a retinal degeneration. The retinal degeneration may be central or peripheral in location. A pigmentary maculopathy has been documented.  Other reported manifestations in some cases include distal amyotrophy of the hands, dysarthria, mental retardation.