" /> Spastic paraplegia 4, autosomal dominant - CISMeF





Preferred Label : Spastic paraplegia 4, autosomal dominant;

Symbol : SPG4;

CISMeF acronym : FSP2; SPG4;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : FSP2; Familial spastic paraplegia, autosomal dominant, 2;

Description : The hereditary spastic paraplegias (SPG, HSP) are a group of clinically and genetically diverse inherited disorders characterized predominantly by progressive lower extremity spasticity and weakness. SPG is classified by mode of inheritance (autosomal dominant, autosomal recessive, and X-linked) and whether the primary symptoms occur in isolation ('uncomplicated') or with other neurologic abnormalities ('complicated'). Pure SPG4 is the most common form of autosomal dominant hereditary SPG, comprising up to 45% of cases (Svenson et al., 2001; Crippa et al., 2006). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (182600).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the spastin gene (SPG4, 604277.0001);

Prefixed ID : #182601;

Détails


Vous pouvez consulter :


Nous contacter.
29/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.