نتایج جستجو برای: hereditary spastic paraplegia

تعداد نتایج: 94252  

Journal: :Case reports 2022

Introduction: Hereditary spastic paraplegia (HSP) is the term for a group of neurological disorders characterized by progressive spasticity and muscle weakness in lower limbs. Its etiology genetic has been associated with mutations more than 60 genes. HSP rare may be useful differential diagnosis cerebral palsy. Case presentation: 16-year-old male due to mutation NIPA1 gene:c.316G>A (p. Gly1...

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 2019

Journal: :Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 2007

Journal: :Journal of neurology, neurosurgery, and psychiatry 1985
C L Scholtz M Swash

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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