1 Partial loss of FITM2 function causes hereditary spastic paraplegia ...
Summary. This study aimed to describe the clinical phenotype of a large collection of families with autosomal dominant pure hereditary spastic paraplegia ...
Diagnostic test: MALATTIE CEREBELLARIThe 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 ...
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