Predominant cerebellar phenotype in spastic paraplegia 7 (SPG7)
نویسندگان
چکیده
منابع مشابه
Expanded phenotype in a patient with spastic paraplegia 7
Hereditary spastic paraplegia is a group of clinically and genetically heterogeneous neurodegenerative disorders, often characterized by weakness and spasticity in the lower limbs. In our study, we describe a spastic paraplegia type 7 patient with an expanded phenotype who was diagnosed after the discovery of pathogenic variants in SPG7.
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The clinical features of five affected members in three generations of a family with dominantly inherited Strumpell's spastic paraplegia are described, together with the pathological findings in two cases. The late presentation and slow progression of the disease encompass features of the types I and II of other authors illustrating the heterogeneous expression of the disorder. Cerebellar invol...
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Mutations in the SPG7 gene, encoding the mitochondrial protein paraplegin, were the first to be identified in autosomal recessive hereditary spastic paraplegia (ARHSP). Four different SPG7 mutations have been described so far in association with both pure and complicated HSP phenotypes. Muscle biopsies from the most severely affected patients have shown histological evidence of an oxidative pho...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2015
ISSN: 2054-345X
DOI: 10.1038/hgv.2015.12