Autosomal recessive spastic ataxia 8 (SPAX8)

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Autosomal recessive spastic ataxia 8 (SPAX8). This is caused by mutations in the NKX6-2 gene. Fully referenced neurology checklist.

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

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Ophthalmologic features

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Systemic features

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Orthopaedic features

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Magnetic resonance imaging (MRI) brain: features

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References

  1. 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.
  2. 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.
  3. 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).
  4. 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.
  5. 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.

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