Mania associated with complicated hereditary spastic paraparesis
نویسندگان
چکیده
منابع مشابه
ACO2 homozygous missense mutation associated with complicated hereditary spastic paraplegia
Objective To identify the clinical characteristics and genetic etiology of a family affected with hereditary spastic paraplegia (HSP). Methods Clinical, genetic, and functional analyses involving genome-wide linkage coupled to whole-exome sequencing in a consanguineous family with complicated HSP. Results A homozygous missense mutation was identified in the ACO2 gene (c.1240T>G p.Phe414Val)...
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BACKGROUND Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteristics have not been investigated. OBJECTIVES To describe the gait patterns in hereditary spastic paraparesis and to identify subgroups of patients according to specific kinematic features of walking. M...
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In many short-stature patients with human T-lymphotrophic virus type I-associated myelopathy/tropical spastic paraparesis (HAM/TSP), signs and symptoms were manifested during childhood. Successive investigations revealed 12 of 14 short-stature patients with pseudohypoparathyroidism (PHP) from the findings of short metacarpi, parathyroid hormone infusion test, immunoblotting of erythrocyte membr...
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ژورنال
عنوان ژورنال: Journal of Neurosciences in Rural Practice
سال: 2011
ISSN: 0976-3147,0976-3155
DOI: 10.4103/0976-3147.83592