Autosomal recessive spastic ataxia 8 (SPAX8)
Evidence-based neurology checklist on autosomal recessive spastic ataxia 8 (spax8): Genetics This is caused by mutations in the NKX6-2 gene The transmission is autosomal recessive The age of onset is in the neonatal period Neurological features Ophthalmologic features Systemic features Orthopaedic…
Genetics
- This is caused by mutations in the NKX6-2 gene
- The transmission is autosomal recessive
- The age of onset is in the neonatal period
Neurological features
Ophthalmologic features
Systemic features
Orthopaedic features
Magnetic resonance imaging (MRI) brain: features
References
- Chelban V, Alsagob M, Kloth K, et al. Genetic and phenotypic characterization of NKX6-2-related spastic ataxia and hypomyelination. Eur J Neurol 2020; 27:334-342.
- Chelban V, Patel N, Vandrovcova J, et al. Mutations in NKX6-2 cause progressive spastic ataxia and hypomyelination. Am J Hum Genet 2017; 100:969-977.
- Hosseini Bereshneh A, Hosseipour S, Rasoulinezhad MS, Pak N, Garshasbi M, Tavasoli AR. Expanding the clinical and neuroimaging features of NKX6-2-related hereditary spastic ataxia type 8. Eur J Med Genet 2020 (Epub ahead of print).
- Dorboz I, Aiello C, Simons C, et al. Biallelic mutations in the homeodomain of NKX6-2 underlie a severe hypomyelinating leukodystrophy. Brain 2017; 140:2550-2556.
- Baldi C, Bertoli-Avella AM, Al-Sannaa N, et al. Expanding the clinical and genetic spectra of NKX6-2-related disorder. Clin Genet 2018; 93:1087-1092.
Related checklists
- Autosomal dominant spastic ataxia (SPAX1)
- Autosomal recessive spastic ataxia 2 (SPAX2)
- Autosomal recessive spastic ataxia 3 (SPAX3)
- Autosomal recessive spastic ataxia 4 (SPAX4)
- Autosomal recessive spastic ataxia 5 (SPAX5)
- Autosomal recessive spastic ataxia 6 (SPAX6)
- Autosomal dominant spastic ataxia 7 (SPAX7)
- Galloway Mowat syndrome (GAMOS)
- PHARC syndrome
- Spastic ataxias: differential diagnosis
