Hereditary spastic paraplegia associated with thin corpus callosum
نویسندگان
چکیده
منابع مشابه
Hereditary spastic paraplegia associated with thin corpus callosum.
Autosomal recessive hereditary spastic paraplegia (AR-HSP) associated with thin corpus callosum was recently described in Japan, and most families were linked to chromosome 15 q13-15. We report two patients from two different Brazilian families with progressive gait disturbance starting at the second decade of life, spastic paraparesis, and mental deterioration. One patient presented cerebellar...
متن کاملAutosomal recessive hereditary spastic paraplegia with thin corpus callosum among Saudis.
OBJECTIVE To assess the mutational and clinical spectrum of spatacsin associated with autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum (TCC). METHODS A retrospective study was carried out at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia from February 2008 until March 2011. Four unrelated Saudi Arabian families with ARHSP-TCC were ...
متن کاملClinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 (SPG11).
BACKGROUND Hereditary spastic paraplegia (HSP) with thin corpus callosum (CC) is a rare neurodegenerative disorder classified as a complicated form of spastic paraplegia. Some patients with HSP with thin CC have previously been described in Japanese families, and the genetic locus was linked to chromosome 15q13-15. OBJECTIVE Our objective was to further clinically and genetically characterize...
متن کاملHereditary spastic paraplegia with thin corpus callosum: reduction of the SPG11 interval and evidence for further genetic heterogeneity.
BACKGROUND Hereditary spastic paraplegia (HSP) with thin corpus callosum (TCC) is an autosomal recessive form of complicated HSP mainly characterized by slowly progressive spastic paraparesis and mental deterioration beginning in the second decade of life. The locus for HSP-TCC, designated SPG11, was mapped to chromosome 15q13-15 in some of the affected families from Japan, Europe, and North Am...
متن کاملHereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity.
OBJECTIVE To perform a clinical and genetic study of Tunisian families with autosomal recessive (AR) hereditary spastic paraplegia with thin corpus callosum (HSP-TCC). DESIGN Linkage studies and mutation screening. SETTING Reference Center for Neurogenetics in South and Center Tunisia. PARTICIPANTS Seventy-three subjects from 33 "apparently" unrelated Tunisian families with AR HSP. MAIN...
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ژورنال
عنوان ژورنال: Arquivos de Neuro-Psiquiatria
سال: 2001
ISSN: 0004-282X
DOI: 10.1590/s0004-282x2001000500025