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Autosomal recessive hereditary spastic paraplegia: clinical and genetic characteristics of a well-defined cohort
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology, Medical Genetics.
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2013 (English)In: Neurogenetics, ISSN 1364-6745, E-ISSN 1364-6753, Vol. 14, no 3-4, 181-188 p.Article in journal (Refereed) Published
Abstract [en]

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.

Place, publisher, year, edition, pages
2013. Vol. 14, no 3-4, 181-188 p.
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URN: urn:nbn:se:uu:diva-208524DOI: 10.1007/s10048-013-0366-9ISI: 000326641000003OAI: oai:DiVA.org:uu-208524DiVA: diva2:652907
Available from: 2013-10-02 Created: 2013-10-02 Last updated: 2013-12-09Bibliographically approved

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Baskin, Berivan
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