Author's response to reviews Title: Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia Authors:
نویسندگان
چکیده
Victoria Alvarez ([email protected]) Elena Sánchez-Ferrero ([email protected]) Christian Beetz ([email protected]) Marta Díaz ([email protected]) Belén Alonso ([email protected]) Ana I Corao ([email protected]) Josep Gámez ([email protected]) Jesús Esteban ([email protected]) Juan F Gonzalo ([email protected]) Samuel I Pascual-Pascual ([email protected]) Adolfo López de Munain ([email protected]) Germán Moris ([email protected]) Renne Ribacoba ([email protected]) Celedonio Márquez ([email protected]) Jordi Rosell ([email protected]) Maria J García-Barcina ([email protected]) Rosario Marín ([email protected]) Emilia del Castillo ([email protected]) Carmen Benito ([email protected]) Eliecer Coto ([email protected])
منابع مشابه
Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia
BACKGROUND Hereditary Spastic Paraplegias (HSP) are characterized by progressive spasticity and weakness of the lower limbs. At least 45 loci have been identified in families with autosomal dominant (AD), autosomal recessive (AR), or X-linked hereditary patterns. Mutations in the SPAST (SPG4) and ATL1 (SPG3A) genes would account for about 50% of the ADHSP cases. METHODS We defined the SPAST a...
متن کاملMutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia.
BACKGROUND Hereditary spastic paraplegia (HSP), a genetically and clinically heterogeneous group of neurodegenerative disorders, is characterized by progressive lower limb weakness and spasticity. Among the 8 loci associated with the autosomal dominant uncomplicated HSP (AD-HSP), the spastin (SPG4) and atlastin (SPG3A) genes have been known to account for approximately 40% and 10% of all cases,...
متن کاملHigh frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
BACKGROUND Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease. The most frequent cause of autosomal dominant HSP is mutation of SPAST (SPG4 locus), but additional pedigrees remain mutation negative by conventional screening despite linkage to SPG4. OBJECTIVE To determine the frequency of genomic copy number aberrations of SPAST in autosomal dominant H...
متن کاملHigh frequency of SPG4 in Taiwanese families with autosomal dominant hereditary spastic paraplegia
BACKGROUND Hereditary spastic paraplegias (HSPs) are a group of neurodegenerative diseases characterized by progressive spasticity and weakness of the lower limbs. SPG4, SPG3A and SPG31 are the three leading causes of autosomal dominant (AD) HSPs. METHODS A total of 20 unrelated AD-HSP families were recruited for clinical and genetic assessment. Detection of mutations in SPG4, SPG3A and SPG31...
متن کاملClinical and genetic study of hereditary spastic paraplegia in Canada
OBJECTIVE To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP. METHODS We conducted a multicenter observational study of patients who met clinical criteria for the diagnosis of HSP in the provinces of Alberta, Ontario, ...
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