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01.11.2013 | Original Article

Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort

verfasst von: G. Yoon, B. Baskin, M. Tarnopolsky, K. M. Boycott, M. T. Geraghty, E. Sell, S. Goobie, W. Meschino, B. Banwell, P. N. Ray

Erschienen in: Neurogenetics | Ausgabe 3-4/2013

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Abstract

We describe the clinical and genetic features of a well-characterized cohort of patients with autosomal recessive hereditary spastic paraplegia (ARHSP) in the province of Ontario. Patients with documented corticospinal tract abnormalities were screened by whole gene sequencing and multiplex ligation probe amplification for mutations in nine genes known to cause ARHSP. Of a cohort of 39 patients, a genetic diagnosis was established in 17 (44 %) and heterozygous mutations were detected in 8 (21 %). Mutations were most frequent in SPG7 (12 patients), followed by SPG11 (10 patients), PNPLA6 (SPG39, 2 patients), and ZFYVE26 (SPG15, 2 patients). Although there are associations between some clinical manifestations of ARHSP and specific genes, many patients are tested at an early stage of the disease when phenotype/genotype correlations are not obvious. Accurate molecular characterization of well-phenotyped cohorts of patients will be essential to establishing the natural history of these rare degenerative disorders to enable future clinical trials.

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Titel: Autosomal recessive hereditary spastic paraplegia—clinical and genetic characteristics of a well-defined cohort
verfasst von: G. Yoon
B. Baskin
M. Tarnopolsky
K. M. Boycott
M. T. Geraghty
E. Sell
S. Goobie
W. Meschino
B. Banwell
P. N. Ray
Publikationsdatum: 01.11.2013
Verlag: Springer Berlin Heidelberg
Erschienen in: Neurogenetics / Ausgabe 3-4/2013
Print ISSN: 1364-6745
Elektronische ISSN: 1364-6753
DOI: https://doi.org/10.1007/s10048-013-0366-9

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