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Autosomal recessive hereditary spastic paraplegia
Autosomal recessive hereditary spastic paraplegia (AR HSP, Strümpell-Lorrain syndrome) is a recessively inherited form of HSP causing progressive lower limb spasticity; SPG11 is the most common gene, prevalence about 1.8 per 100,000.
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ARSACS (Charlevoix-Saguenay spastic ataxia, SPAX6) is an autosomal recessive neurodegenerative ataxia caused by SACS gene mutations encoding sacsin, first described in Quebec with birth incidence 1 in 1,932 and now found worldwide.
Autosomal recessive spastic ataxia with leukoencephalopathy
ARSAL (SPAX3, spastic ataxia 3, OMIM 611390) is an ultra-rare autosomal recessive ataxia with leukoencephalopathy caused by MARS2 rearrangements, described in French-Canadian families, onset age 2 to 59.
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome (SPAX4, OMIM 613672) is an ultra-rare MTPAP-related mitochondrial disease with childhood-onset spastic paraparesis, cerebellar ataxia, dysarthria, and optic atrophy; first described in an Old Order Amish family.
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 11 (SPG11, KIAA1840, spatacsin, Nakamura-Osame syndrome): complex hereditary spastic paraplegia with spastic paraparesis, cognitive decline, and thin corpus callosum on MRI, caused by biallelic loss-of-function SPG11 mutations.
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 14 (SPG14, OMIM 605229) is a rare complex hereditary spastic paraplegia mapped to 3q27-q28, with adult-onset spastic paraplegia, mild intellectual disability, visual agnosia, and distal motor neuropathy.
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 20 (SPG20, Troyer syndrome) is a rare complex hereditary spastic paraplegia caused by SPART/SPG20 mutations encoding spartin, with childhood-onset spastic paraparesis, distal amyotrophy, dysarthria, short stature, and a c.1110delA founder variant in the Old Order Amish.
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 21, or Mast syndrome (SPG21), a rare complicated hereditary spastic paraplegia caused by biallelic SPG21/ACP33 mutations at 15q22.31, with spastic paraparesis, dementia, thin corpus callosum, and an Amish founder mutation 601insA.
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 23 (SPG23, Lison syndrome) is a rare childhood-onset hereditary spastic paraplegia with peripheral neuropathy, vitiligo-like pigment changes, premature graying, and characteristic facies; mapped to 1q24-q32, DSTYK, OMIM 270750.
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia type 24 (SPG24, OMIM 607584) is a very rare pure hereditary spastic paraplegia with infantile-onset lower limb spasticity, mapped to 13q14 with no gene identified.
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare hereditary spastic paraplegia beginning in adulthood, combining leg spasticity with spinal pain from disc herniation.
Autosomal recessive spastic paraplegia type 27
Autosomal recessive spastic paraplegia type 27 (SPG27) is a rare hereditary spastic paraplegia causing slowly progressive lower limb spasticity, sometimes with polyneuropathy, dysarthria, and intellectual disability; its gene is unknown.
Autosomal recessive spastic paraplegia type 28
SPG28 (autosomal recessive spastic paraplegia type 28, OMIM 609340) is a rare pure hereditary spastic paraplegia caused by DDHD1 mutations at 14q22.1, with childhood or adolescent onset of slowly progressive lower-limb spasticity and gait difficulty.
Autosomal recessive spastic paraplegia type 35
Autosomal recessive spastic paraplegia type 35 (SPG35, FAHN) is an ultra-rare childhood-onset hereditary spastic paraplegia caused by biallelic FA2H mutations, with dystonia, cognitive decline, seizures, and the WHAT brain imaging signature.
Autosomal recessive spastic paraplegia type 39
Autosomal recessive spastic paraplegia type 39 (SPG39, OMIM 612020) is a rare complex hereditary spastic paraplegia caused by PNPLA6 (neuropathy target esterase) mutations, with childhood onset, spasticity, peripheral neuropathy, and distal muscle wasting.
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 43 (SPG43, OMIM 615043) is a rare complex hereditary spastic paraplegia caused by C19orf12 mutations, with childhood-onset spasticity, distal amyotrophy, and allelic NBIA4.
Autosomal recessive spastic paraplegia type 44
Autosomal recessive spastic paraplegia type 44 (SPG44) is a very rare hereditary spastic paraplegia caused by GJC2 gene mutations, causing progressive leg spasticity with ataxia and mild cognitive impairment.
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 45, also called SPG45 or SPG65, is a rare hereditary spastic paraplegia beginning in infancy with progressive leg spasticity, caused by mutations in the NT5C2 gene.
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex hereditary spastic paraplegia caused by GBA2 gene mutations, with spastic gait, ataxia, cataracts, and cognitive decline starting in childhood.
Autosomal recessive spastic paraplegia type 48
Autosomal recessive spastic paraplegia type 48 (SPG48, OMIM 613647) is a rare hereditary spastic paraplegia caused by AP5Z1 mutations at 7p22.1, with adult-onset spastic paraplegia, urinary incontinence, and complex features including parkinsonism and thin corpus callosum.
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 54 (SPG54, hereditary spastic paraplegia 54) is a rare complex HSP caused by biallelic DDHD2 mutations (8p11.23), with early-onset spastic paraplegia, intellectual disability, thin corpus callosum, and a thalamic lipid peak on MRS.
Autosomal recessive spastic paraplegia type 55
SPG55, autosomal recessive spastic paraplegia type 55, C12ORF65-related HSP: rare childhood-onset complex hereditary spastic paraplegia with optic atrophy, ophthalmoplegia, and sensorimotor neuropathy, caused by C12ORF65 mutations at 12q24.31 (OMIM 615035).
Autosomal recessive spastic paraplegia type 57
SPG57 (autosomal recessive spastic paraplegia type 57, ORPHA431329, OMIM 615658) is an extremely rare complex hereditary spastic paraplegia caused by TFG gene mutations at 3q12.2, with infancy-onset leg spasticity, optic atrophy, and distal neuropathy.
Autosomal recessive spastic paraplegia type 5A
SPG5A (SPG5, OMIM 270800) is a rare autosomal recessive hereditary spastic paraplegia caused by CYP7B1 mutations, causing oxysterol accumulation, progressive leg spasticity, and elevated plasma 27-hydroxycholesterol as a diagnostic biomarker.
Autosomal recessive spastic paraplegia type 61
SPG61 (autosomal recessive spastic paraplegia type 61, ARL6IP1 complex spastic paraplegia) is a rare infantile-onset complicated hereditary spastic paraplegia caused by biallelic ARL6IP1 mutations at 16p12.3, featuring scissors gait, polyneuropathy, and digit loss; OMIM 615685.
Autosomal recessive spastic paraplegia type 64
Autosomal recessive spastic paraplegia type 64 (SPG64, ENTPD1-related neurodevelopmental disorder) is an ultra-rare complex hereditary spastic paraplegia caused by biallelic ENTPD1 mutations at 10q24.1, with childhood-onset spastic paraplegia and intellectual disability.
Autosomal recessive spastic paraplegia type 76
SPG76 (OMIM 616907) is a rare autosomal recessive hereditary spastic paraplegia caused by CAPN1 mutations at 11q13.1, with adult-onset lower limb spasticity, gait disturbance, ataxia, dysarthria, and pes cavus.
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spastic paraplegia type 78 (SPG78, OMIM 617225) is a rare complex hereditary spastic paraplegia caused by biallelic ATP13A2 mutations at 1p36.13, with adult-onset lower-limb spasticity, axonal neuropathy, cerebellar ataxia, and cognitive impairment, overlapping Kufor-Rakeb syndrome.
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome (SCABD, also called SCAR3) is a rare autosomal recessive disorder in which childhood-onset cerebellar ataxia occurs with blindness and deafness.
Autosomal spastic paraplegia type 18
Autosomal spastic paraplegia type 18 (SPG18), also hereditary spastic paraplegia 18, is a rare complex HSP caused by ERLIN2 mutations, with childhood-onset spastic paraplegia, intellectual disability, joint contractures, and possible ALS conversion.