Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and ... Spastic paraplegias (SPGs) are a genetically heterogeneous group of neurologic disorders characterized by progressive weakness and spasticity of the legs. Complicated SPGs are accompanied by additional neurologic symptoms such as cerebellar ataxia, sensory loss, mental retardation, nystagmus, and optic atrophy (summary by Steinmuller et al., 1997). A locus for spastic paraplegia-16 has been mapped to Xq11.2-q23 (Steinmuller et al., 1997). For a discussion of genetic heterogeneity of X-linked spastic paraplegia, see 303350.
Steinmuller et al. (1997) studied a 4-generation family with severe complicated X-linked spastic paraplegia. There were 5 living affected males at the time of study. The patients were quadriplegic and had motor aphasia, reduced vision, mild mental retardation, ... Steinmuller et al. (1997) studied a 4-generation family with severe complicated X-linked spastic paraplegia. There were 5 living affected males at the time of study. The patients were quadriplegic and had motor aphasia, reduced vision, mild mental retardation, and dysfunction of the bowel and bladder. There was no evidence of choreoathetosis. Head circumference was normal in each case. Disease onset occurred during the first 3 months of life. The first symptoms observed were nystagmus (but this disappeared in later life) and dorsal flexion of the great toes. Motor development was delayed, and spasticity developed first in the lower and then in the upper extremities. The patients never learned to walk. All females of the family were normal.