Diagnostic test: MALATTIE CEREBELLARI
The hereditary spastic paraplegias (HSPs) are a clinically and genetically diverse group of inherited neurological disorders that primarily cause ...
GCH1 mutations in hereditary spastic paraplegia - medRxivMutations in the SPAST (previously known as SPG4) gene that encodes the microtubule-severing protein called spastin, are the most common cause of the disease. Studies on hereditary spastic paraplegia proteins - KI Open ArchiveHereditary spastic paraplegia is a rare disorder with gait disturbance due to a degeneration of the corticospinal tract, sometimes accompanied by involvement of ... Hereditary spastic paraplegia type 56: what a mouse can tellHereditary spastic paraplegia type 56 (SPG56-HSP) is a rare autosomal recessive disorder caused by loss of function mutations in.
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