Ataxia-telangiectasia like disorder (ATLD)
Evidence-based neurology checklist on ataxia-telangiectasia like disorder (atld): Genetics This is caused by mutations in the MRE11 gene The gene is on chromosome 11 The onset age is 1-7 years Clinical features Differentiating features of ATLD from ataxia telangiectasia (AT)
Genetics
- This is caused by mutations in the MRE11 gene
- The gene is on chromosome 11
- The onset age is 1-7 years
Clinical features
Differentiating features of ATLD from ataxia telangiectasia (AT)
References
- Embiruçu EK, Martyn ML, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 types, and counting. Arq Neuropsiquiatr 2009; 67:1143-1156.
- Fernet M, Gribaa M, Salih MA, Seidahmed MZ, Hall J, Koenig M. Identification and functional consequences of a novel MRE11 mutation affecting 10 Saudi Arabian patients with the ataxia telangiectasia-like disorder. Hum Mol Genet 2005; 14:307-318.
- Vermeer S, van de Warrenburg BP, Willemsen MA, et al. Autosomal recessive cerebellar ataxias: the current state of affairs. J Med Genet 2011; 48:651e659.
Related checklists
- Ataxia telangiectasia (AT)
- COQ8A ataxia
- Cayman ataxia
- Cockayne syndrome
- Autosomal recessive spinocerebellar ataxia with raised alpha-fetoprotein
- Abetalipoproteinaemia
- Gordon Holmes syndrome (GHS)
- Autosomal recessive spinocerebellar ataxias (SCAR)
- Autosomal recessive cerebellar ataxia with STUB1 mutations
- Spinocerebellar ataxia with axonal neuropathy (SCAN1)
- Infantile-onset spinocerebellar ataxia (IOSCA)
