" /> Spastic paraplegia 7, autosomal recessive - CISMeF





Preferred Label : Spastic paraplegia 7, autosomal recessive;

Symbol : SPG7;

CISMeF acronym : SPG7;

Type : Phenotype, molecular basis known;

Description : Hereditary spastic paraplegia (SPG) is characterized by progressive weakness and spasticity of the lower limbs due to degeneration of corticospinal axons. There is considerable genetic heterogeneity. Inheritance is most often autosomal dominant (see 182600), but X-linked (see 312920) and autosomal recessive (see 270800) forms occur. SPG7 shows phenotypic variability between families. Some cases are pure, whereas other are complicated with additional neurologic features (Warnecke et al., 2007).;

Inheritance : Autosomal recessive; Autosomal dominant;

Molecular basis : Caused by mutation in the paraplegin gene (SPG7, 602783.0001);

Prefixed ID : #607259;

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02/05/2025


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