Clinical Heterogeneity of Autosomal Recessive Spastic Paraplegias
1999; American Medical Association; Volume: 56; Issue: 8 Linguagem: Inglês
10.1001/archneur.56.8.943
ISSN1538-3687
AutoresPaula Coutinho, José Barros, R. Zemmouri, Joás Guimarães, Cristina Alves, Riu Chorão, Esmeralda Lourenço, Paula Ribeiro, José L. Loureiro, João Vasco Santos, Abdelmadjid Hamri, Caroline Paternotte, Jamïlé Hazan, Carolina Silva, J Prudhomme, Djamel Grid,
Tópico(s)Neurogenetic and Muscular Disorders Research
ResumoBackground: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described.While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition.Objective: To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies.Results: Clinical features in 106 patients belonging to 46 Portuguese and Algerian families with autosomal recessive HSP are presented, as well as the results of molecular studies in 23 of these families.Five phenotypes are defined: (1) pure early-onset families, (2) pure lateonset families, (3) complex families with mental retardation, (4) complex families with mental retardation and peripheral neuropathy, and (5) complex families with cerebellar ataxia.Six additional families have specific complex presentations, each of which is unique in the pres-
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