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A novel frameshift mutation of C19ORF12 causes NBIA4 with cerebellar atrophy and manifests with severe peripheral motor axonal neuropathy
Author(s) -
Schottmann G.,
Stenzel W.,
Lützkendorf S.,
Schuelke M.,
Knierim E.
Publication year - 2014
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12137
Subject(s) - frameshift mutation , neuropathology , medicine , neuroscience , psychology , mutation , pathology , genetics , biology , disease , gene
To the Editor : Neurodegeneration with brain iron accumulation (NBIA) is a group of heterogeneous genetic disorders with extrapyramidal movement disturbance, spasticity and intellectual decline (1). Clinical symptoms overlap between several subtypes, hence their definite classification can only be achieved through molecular testing. Mutations have been found in PANK2 (pantothenate kinase-associated neurodegeneration; NBIA1, MIM#234200), PLA2G6 (infantile neuroaxonal dystrophy; NBIA2, MIM#256600), ATP13A2 (Kufor–Rakeb syndrome; NBIA3, MIM#606693), FA2H (fatty-acidhydroxylase-related neurodegeneration, MIM 612319), and in WDR45 for X-linked NBIA with distinct cranial magnetic resonance imaging (cMRI) features (1).