Article
Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.
Neuropediatrics - 1 Aug 1998
Topaloğlu H, Pinarli G, Erdem H, Gücüyener K, Karaduman A, Topçu M, Akarsu A N, Ozgüç M
Abstract excerpt
Among our 23 families (32 cases) with autosomal recessive hereditary spastic paraplegia (AR-HSP) all presenting in childhood, 9 families had the "pure" form. Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. Fourt...
Topics
- Adolescent
- Adult
- Age of Onset
- Cerebellar Diseases
- Child
- Child, Preschool
- Chromosome Aberrations
- Chromosome Disorders
- Chromosome Mapping
- Cohort Studies
- Disease Progression
- Female
- Genetic Linkage
- Genetic Variation
- Humans
- Intellectual Disability
- Lod Score
- Male