Hereditary spastic paraplegia type 78 (SPG78)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
Hereditary spastic paraplegia type 78 (SPG78). This is caused by mutations in the ATP13A2 gene on chromosome 1p. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the ATP13A2 gene on chromosome 1p
- The transmission is autosomal recessive
- The onset is in adulthood
Related gene disorders
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Pyramidal features
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Cerebral features
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Cerebellar features
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Peripheral features
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Ophthalmic features
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Magnetic resonance imaging (MRI) brain: features
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Dopamine transporter (DaT) scan
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Nerve conduction studies (NCS)
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References
- Estrada-Cuzcano A, Martin S, Chamova T, et al. Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78). Brain 2017; 140:287-305.
- Kara E, Tucci A, Manzoni C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 2016; 139:1904-1918.
Related checklists
- Hereditary spastic paraplegia type 76 (SPG76)
- Hereditary spastic paraplegia type 77 (SPG77)
- Hereditary spastic paraplegia type 79 (SPG79)
- Hereditary spastic paraplegia type 80 (SPG80)
- Hereditary spastic paraplegia type 81 (SPG81)
- Hereditary spastic paraplegia type 82 (SPG82)
- Hereditary spastic paraplegia type 83 (SPG83)
- Hereditary spastic paraplegia type 84 (SPG84)
- Hereditary spastic paraplegia type 85 (SPG85)
- Hereditary spastic paraplegia type 86 (SPG86)
- Hereditary spastic paraplegia type 87 (SPG87)
- Hereditary spastic paraplegia type 88 (SPG88)
- Hereditary spastic paraplegia type 89 (SPG89)
