Ataxia telangiectasia (AT)

Evidence-based neurology checklist on ataxia telangiectasia (at): Genetics and pathology This is caused by mutations in the ATM gene on chromosome 11 The gene encodes a serine/threonine kinase The transmission is autosomal recessive The mutation impairs DNA repair It also causes low IgA and IgG…

Genetics and pathology

  • This is caused by mutations in the ATM gene on chromosome 11
  • The gene encodes a serine/threonine kinase
  • The transmission is autosomal recessive
  • The mutation impairs DNA repair
  • It also causes low IgA and IgG levels and raised serum α fetoprotein (AFP)
  • The onset age is usually < 3 years

Ataxic features

Telangiectasias

Other movement disorders

Peripheral neuropathy (PN)

Other neurological features

Systemic features

Differential diagnosis

Blood tests

Magnetic resonance imaging (MRI) brain: features

Investigational treatments

References

  1. Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
  2. Sharma A, Buxi G, Yadav R, Kohli A. Ataxia telangiectasia: a report of two cousins and review of the literature. Indian J Med Pediatr Oncol 2011; 32:217-222.
  3. Shaikh AG, Marti S, Tarnutzer AA, et al. Gaze fixation deficits and their implication in ataxia-telangiectasia. JNNP 2009; 80:858-864.
  4. Lnu P, Sehgal V, Kapila S, Gulati N, Bhalla Sehgal L. Ataxia telangiectasia presenting as cervical dystonia. Cureus 2022; 14:e30723. 
  5. Charlesworth G, Mohire MD, Schneider SA, Stamelou M, Wood NW, Bhatia KP. Ataxia telangiectasia presenting as dopa-responsive cervical dystonia. Neurology 2013; 81:1148–1151.
  6. And 10 more. Subscribe to see the full list

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