Hereditary spastic paraplegia type 78 (SPG78)
Evidence-based neurology checklist on hereditary spastic paraplegia type 78 (spg78): 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 Pyramidal features Cerebral features Cerebellar…
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
Pyramidal features
Cerebral features
Cerebellar features
Peripheral features
Ophthalmic features
Magnetic resonance imaging (MRI) brain: features
Dopamine transporter (DaT) scan
Nerve conduction studies (NCS)
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
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- 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)
