Autosomal recessive spastic paraplegia type 78: genes and variants

Genes linked to Autosomal recessive spastic paraplegia type 78

• ATP13A2: Polyamine-transporting ATPase 13A2

  It supports lysosomal and endolysosomal homeostasis and transports polyamines and other cationic substrates across intracellular membranes. Biallelic pathogenic variants cause Kufor-Rakeb syndrome and related early-onset parkinsonian-neurodegenerative phenotypes.

  2 disease-causing and 350 uncertain variants in ATP13A2 are linked to Autosomal recessive spastic paraplegia type 78.

• SPG7: Mitochondrial inner membrane m-AAA protease component paraplegin

  It participates in mitochondrial inner-membrane protein quality control and respiratory homeostasis as part of the m-AAA protease machinery. Biallelic pathogenic variants cause SPG7-related disease, commonly presenting with spastic ataxia, optic neuropathy, or progressive gait impairment.

  0 disease-causing and 0 uncertain variants in SPG7 are linked to Autosomal recessive spastic paraplegia type 78.

• KIF1A: Kinesin-like protein KIF1A

  It transports synaptic vesicle precursors and other cargo along axonal microtubules toward nerve terminals. Pathogenic variants cause a broad KIF1A-associated neurological disorder spectrum including hereditary sensory neuropathy, spastic paraplegia, optic atrophy, ataxia, and developmental impairment.

  0 disease-causing and 0 uncertain variants in KIF1A are linked to Autosomal recessive spastic paraplegia type 78.

Known disease-causing variants in Autosomal recessive spastic paraplegia type 78

Diseases related to Autosomal recessive spastic paraplegia type 78

• Hereditary spastic paraplegia, also linked to KIF1A and SPG7
• Neuropathy, hereditary sensory, type 2C, also linked to KIF1A
• Neurodegeneration with brain iron accumulation, also linked to ATP13A2
• Neuropathy, hereditary sensory and autonomic, type 2A, also linked to KIF1A
• Hereditary pancreatitis, also linked to SPG7
• Spastic ataxia, also linked to SPG7
• Mitochondrial disease, also linked to SPG7
• Possible mitochondrial disorder - nuclear genes, also linked to SPG7
• Mitochondrial DNA maintenance disorder, also linked to SPG7
• Kufor-Rakeb syndrome, also linked to ATP13A2
• Hereditary ataxia, also linked to SPG7
• Parkinson disease, also linked to ATP13A2

Frequently asked questions

Which genes are linked to Autosomal recessive spastic paraplegia type 78?

In CATVariant, Autosomal recessive spastic paraplegia type 78 is linked to 3 analyzed proteins: ATP13A2 (Polyamine-transporting ATPase 13A2), SPG7 (Mitochondrial inner membrane m-AAA protease component paraplegin) and KIF1A (Kinesin-like protein KIF1A).

How many genetic variants are linked to Autosomal recessive spastic paraplegia type 78?

439 variants: 2 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 350 are of uncertain significance or have conflicting reports.

Which uncertain variants in Autosomal recessive spastic paraplegia type 78 look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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