Hereditary spastic paraplegia

Gene: SPG11

Green List (high evidence)

Green List (high evidence)

The most common cause of complex HSP. Four less common distinct phenotypes have also been associated with SPG11 mutations, including Kjellin syndrome (Puech et al. , 2011, Nowak et al. , 2014), slowly progressive amyotrophic lateral sclerosis (Orlacchio et al. , 2010, Daoud et al. , 2012), syndromes reminiscent of dystonia-parkinsonism (Paisan-Ruiz et al. , 2010, Kara et al. , 2013) and syndromes with prominent L-dopa responsive parkinsonism (Anheim et al. , 2009, Everett et al. , 2012).

Created: 13 Jan 2016, 3:32 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
complex HSP (HSP associated with learning difficulties, ataxia, dysarthria, neuropathy, optic atrophy -with brain MRI showing THIN CORPUS CALLOSUM, White matter abnormalities)

Mode of pathogenicity
Other