Sökning: "Cynthia Soderblom"

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1. 1. Studies on hereditary spastic paraplegia proteins

   Författare :Cynthia Soderblom; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : The hereditary spastic paraplegias (HSPs) are a clinically and genetically diverse group of inherited neurological disorders that primarily cause progressive spasticity and weakness in the lower limbs due to a length-dependent, retrograde degradation of the corticospinal motor neurons. Purely spastic paraplegia is also known as uncomplicated HSP, but complicated forms of HSP exist as well, with symptoms such as mental retardation, dementia, seizures, and optic, cortical, and cerebellar atrophy. LÄS MER