Pure or complex autosomal recessive spastic paraplegia
-Rare genetic disease
-Rare neurologic disease
Comment:
Hereditary spastic paraplegias (HSPs), a group of neurodegenerative disorders that cause progressive spasticity of the lower limbs, are characterized by clinical and genetic heterogeneity. The autosomal recessive spastic paraplegia associated with mental retardation and distal motor neuropathy, SPG14, maps to chromosome 3q27-q28. The FGF12 gene is a member of the fibroblast growth factor (FGF) family, referred to as “fibroblast growth factor homologous factors” (FHFs). Each FHF is expressed in the developing and adult nervous system, suggesting, for this branch of the FGF family, a role in nervous system development and function. For these reasons, the FGF12 represents a positional candidate gene for SPG14 (PMID:10877981).
In a consanguineous Italian family with SPG studied by Vazza et al. (2000), the average age of onset was 30 years, and the 3 affected individuals were examined clinically at ages 62, 64, and 52 years, respectively. Abnormal ... In a consanguineous Italian family with SPG studied by Vazza et al. (2000), the average age of onset was 30 years, and the 3 affected individuals were examined clinically at ages 62, 64, and 52 years, respectively. Abnormal gait was a presenting symptom in all. Salient clinical features were spastic gait, hyperreflexia, and mild lower limb hypertonicity. Bilateral pes cavus was present in all cases, and plantar responses were extensor. All had mild mental retardation, and signs of distal motor neuropathy were identified. The results of a sural nerve biopsy in 1 patient were normal. All 3 patients were able to walk unaided.