Ataxia pancytopenia syndrome due to SAMD9L mutation presenting as demyelinating neuropathy

Ataxia pancytopenia (ATXPC) syndrome due to gain‐of‐function pathogenic variants in the SAMD9L gene has been described in 38 patients to date. It is characterized by variable neurological and hematological phenotypes including ataxia, pyramidal signs, cytopenias, and hematological malignancies. Peri...

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Veröffentlicht in:	Journal of the peripheral nervous system 2020-12, Vol.25 (4), p.433-437
Hauptverfasser:	Vaughan, David, Bogdanova‐Mihaylova, Petya, Costello, Daniel J., Sweeney, Brian J., McNamara, Brian, Walsh, Richard A., Murphy, Sinéad M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Ataxia ataxia‐pancytopenia syndrome Atrophy autosomal dominant cerebellar ataxia Cerebellar ataxia Cerebellum Charcot‐Marie‐tooth disease Children demyelinating neuropathy Demyelination Hematology Magnetic resonance imaging Nerve conduction Pancytopenia Peripheral neuropathy Phenotypes SAMD9L Substantia alba Thinning
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