Ataxia pancytopaenia syndrome (ATXPC)
Evidence-based neurology checklist on ataxia pancytopaenia syndrome (atxpc): Genetics This is caused by mutations in the SAMD9L gene on chromosome 7 The transmission is autosomal dominant The onset is in the first to third decades There is associated Purkinje cell degeneration Neurological…
Genetics
- This is caused by mutations in the SAMD9L gene on chromosome 7
- The transmission is autosomal dominant
- The onset is in the first to third decades
- There is associated Purkinje cell degeneration
Neurological features
Haematological features
Possible associated features
Differential diagnosis: dyskeratosis congenita (DC)
Differential diagnosis: Hoyeraal-Hreidarsson syndrome (HHS)
Magnetic resonance imaging (MRI) brain: features
Treatment
Synonym
References
- Davidsson J, Puschmann A, Tedgård U, Bryder D, Nilsson L, Cammenga J. SAMD9 and SAMD9L in inherited predisposition to ataxia, pancytopenia, and myeloid malignancies. Leukemia 2018; 32:1106-1115.
- Gorcenco S, Komulainen-Ebrahim J, Nordborg K, et al. Ataxia-pancytopenia syndrome with SAMD9L mutations. Neurol Genet 2017; 3:e183.
- Chen DH, Below JE, Shimamura A, et al. Ataxia-pancytopenia syndrome is caused by missense mutations in SAMD9L. Am J Hum Genet 2016; 98:1146-1158.
- Vaughan D, Bogdanova-Mihaylova P, Costello DJ, et al. Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy. J Peripher Nerv Syst 2020; 25:433-437.
- Tesi B, Davidsson J, Voss M, et al. Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms. Blood 2017; 129:2266-2279.
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