Spastic paraplegia 5A

Common Name(s)

Spastic paraplegia 5A

Spastic paraplegia-5A is an autosomal recessive neurologic disorder with a wide phenotypic spectrum. Some patients have pure spastic paraplegia affecting only gait, whereas others may have a complicated phenotype with additional manifestations, including optic atrophy or cerebellar ataxia (summary by {3:Arnoldi et al., 2012}). The hereditary spastic paraplegias (SPG) are a group of clinically and genetically diverse disorders characterized by progressive, usually severe, lower extremity spasticity; see reviews of {6:Fink et al. (1996)} and {7:Fink (1997)}. Inheritance is most often autosomal dominant (see {182600}), but X-linked (see {303350}) and autosomal recessive forms also occur. Genetic Heterogeneity of Autosomal Recessive Spastic Paraplegia Autosomal recessive forms of SPG include SPG7 ({607259}), caused by mutation in the paraplegin gene ({602783}) on chromosome 16q24; SPG9B ({616586}), caused by mutation in the ALDH18A1 gene ({138250}) on 10q24; SPG11 ({604360}), caused by mutation in the spatacsin gene ({610844}) on 15q21; SPG15 ({270700}), caused by mutation in the ZFYVE26 gene ({612012}) on 14q24; SPG18 ({611225}), caused by mutation in the ERLIN2 gene ({611605}) on 8p11; SPG20 ({275900}), caused by mutation in the spartin gene ({607111}) on 13q12; SPG21 ({248900}), caused by mutation in the maspardin gene ({608181}) on 15q21; SPG26 ({609195}), caused by mutation in the B4GALNT1 gene ({601873}) on 12q13; SPG28 ({609340}), caused by mutation in the DDHD1 gene ({614603}) on 14q22; SPG30 ({610357}), caused by mutation in the KIF1A gene ({601255}) on 2q37; SPG35 ({612319}), caused by mutation in the FA2H gene ({611026}) on 16q23; SPG39 ({612020}), caused by mutation in the PNPLA6 gene ({603197}) on 19p13.3; SPG43 ({615043}), caused by mutation in the C19ORF12 gene ({614297}) on 19q12; SPG44 ({613206}), caused by mutation in the GJC2 gene ({608803}) on 1q42; SPG45 ({613162}), caused by mutation in the NT5C2 gene ({600417}) on 10q24; SPG46 ({614409}), caused by mutation in the GBA2 gene ({609471}) on 9p13; SPG48 ({613647}), caused by mutation in the KIAA0415 gene ({613653}) on 7p22.1; SPG49 ({615031}) caused by mutation in the TECPR2 gene ({615000}) on 14q32; SPG54 ({615033}), caused by mutation in the DDHD2 gene ({615003}) on 8p11; SPG55 ({615035}), caused by mutation in the C12ORF65 gene on 12q24; SPG56 ({615030}), caused by mutation in the CYP2U1 gene ({610670}) on 4q25; SPG57 ({615658}), caused by mutation in the TFG gene ({602498}) on 3q12; SPG61 ({615685}), caused by mutation in the ARL6IP1 gene ({607669}) on 1p12; SPG62 ({615681}), caused by mutation in the ERLIN1 gene on 10q24; SPG63 ({615686}), caused by mutation in the AMPD2 gene ({102771}) on 1p13; SPG64 ({615683}), caused by mutation in the ENTPD1 gene ({601752}) on 10q24; SPG72 ({615625}), caused by mutation in the REEP2 gene ({609347}) on 5q31; SPG74 ({616451}), caused by mutation in the IBA57 gene ({615316}) on 1q42; SPG75 ({616680}), caused by mutation in the MAG gene ({159460}) on 19q13; SPG76 ({616907}), caused by mutation in the CAPN1 gene ({114220}) on 11q13; SPG77 ({617046}), caused by mutation in the FARS2 gene ({611592}) on 6p25; SPG78, caused by mutation in the ATP13A2 gene ({610513}) on 1p36; and SPG79 ({615491}), caused by mutation in the UCHL1 gene ({191342}) on 4p13. Additional autosomal recessive forms of SPG have been mapped to chromosomes 3q (SPG14; {605229}), 13q14 (SPG24; {607584}), 6q (SPG25; {608220}), and 10q22 (SPG27; {609041}).
 

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