Characterizing the phenotypic manifestations of MFN2 R104W mutation in Charcot–Marie–Tooth type 2

ALS5/SPG11/KIAA1840mutations cause autosomal recessive axonal Charcot–Marie–Tooth disease

“…Moreover, the impairment of higher mental functions impairment and brain alterations at MRI in three affected siblings of one ARCMT2 family should be noted. Indeed, the presence of clinical signs of leukoencephalopathy, as well as white matter alterations at brain MRI, has been previously reported in demyelinating, axonal, and intermediate forms of the disorder ( Genari et al , 2011 ; Reyes-Marin et al , 2011 ; Sagnelli et al , 2014 ). Therefore, we believe that brain MRI and neuropsychological testing are useful tools in the clinical work-up of patients with Charcot–Marie–Tooth disease.…”

Molecular modelling of mitofusin 2 for a prediction for Charcot-Marie-Tooth 2A clinical severity

“…Two mutations at Arg104 position: p.Arg104Gln and p.Arg104Trp have been found 15 , 25 – 30 . The p.Arg104Trp mutation was identified by a number of independent groups 15 , 25 , 26 , 28 – 30 . All reports agreed that this variant is responsible for an extremely severe phenotype, where the classical CMT2A is accompanied by symptoms such as pyramidal signs, optic atrophy and mental retardation.…”

Severe cognitive impairment in a patient with CMT2A

“…1). The p.R104W mutation has previously been reported in association with learning difficulties (Bo et al, 2008;Genari et al, 2011;Tufano et al, 2015).…”

“…Additional features known to occasionally occur with MFN2-related disorders are optic atrophy, pyramidal signs, scoliosis, and deafness (Zuchner et al, 2006;Feely et al, 2011;Bombelli et al, 2014). Cognitive impairment has been reported in a small number of patients with MFN2 mutations (Bo et al, 2008;Genari et al, 2011;Tufano et al, 2015).…”