Clinical features of neurodegeneration with brain iron accumulation due to a C19orf12 gene mutation

Clinical and imaging characteristics of late onset mitochondrial membrane protein-associated neurodegeneration (MPAN)

“…Hypointensity of the dorsal striatum has been reported in MPAN but not to the degree seen here (Dogu et al, 2013; Goldman et al, 2013; Hartig et al, 2013). Because the striatal-imaging characteristics are similar to those in the globus pallidus, we believe the striatal signal changes are due to iron deposition.…”

Analysis of the C19orf12 and WDR45 genes in patients with neurodegeneration with brain iron accumulation

“…The recurrent mutation p.Gly69Arg [5,6,14] is supposed to disrupt the subcellular distribution of C19orf12 [2]. To our knowledge, only one other patient equally carrying this mutation in homozygous state has been described in the literature that showed a disease course comparable to our patient MPAN-3 (age of onset in the first decade, bilateral spasticity and optic atrophy -i.e.…”

“…MPAN-3 showed the homozygous recurrent mutation p.Gly69Arg [2,5,6,14]. She presented at age 10 with gait impairment and repeated falls due to spasticity of the lower limbs.…”

Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)

“…Until now, 67 MPAN patients have been described in the literature (Deschauer et al, 2012;Dezfouli et al, 2013;Dogu et al, 2012;Goldman et al, 2013;Hartig et al, 2011;Hogarth et al, 2013;Panteghini et al, 2012;Schottmann, Stenzel, Lutzkendorf, Schuelke, & Knierim, 2013;Schulte et al, 2013). A compilation of all these cases shows that MPAN leads to a distinctive phenotype with prominent pyramidal and extrapyramidal signs, cognitive decline, neuropsychiatric abnormalities, optic atrophy, and motor axonal neuropathy (Table 3.1).…”

“…In addition to iron accumulation, generalized brain atrophy and/or cerebellar atrophy is found in a fraction of MPAN patients. Compilation of patients from references (Deschauer et al, 2012;Dezfouli et al, 2013;Dogu et al, 2012;Goldman et al, 2013;Hartig et al, 2011;Hogarth et al, 2013;Panteghini et al, 2012;Schottmann et al, 2013;Schulte et al, 2013).…”