Mutations in the ER-shaping protein reticulon 2 cause the axon ...
GCH1 mutations have been associated with dopa-responsive dystonia (DRD), Parkinson's disease (PD) and tetrahydrobiopterin (BH4)-deficient ...
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.
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