A case of spastic paraplegia type 11 with a variation in the SPG11 gene
نویسندگان
چکیده
منابع مشابه
Clinical 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...
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15 صفحه اولLysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11
OBJECTIVE Hereditary spastic paraplegias (HSPs) are among the most genetically diverse inherited neurological disorders, with over 70 disease loci identified (SPG1-71) to date. SPG15 and SPG11 are clinically similar, autosomal recessive disorders characterized by progressive spastic paraplegia along with thin corpus callosum, white matter abnormalities, cognitive impairment, and ophthalmologic ...
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ژورنال
عنوان ژورنال: Egyptian Journal of Medical Human Genetics
سال: 2020
ISSN: 2090-2441
DOI: 10.1186/s43042-020-00072-6