Clinical and genetic study of a large Charcot–Marie–Tooth type 2A family from southern Italy

Abstract

Article abstract-The authors report a large pedigree from southern Italy with Charcot-Marie-Tooth disease type 2A (CMT2A). The clinical picture was uniform and characterized by distal muscular weakness and atrophy in the lower limbs, reduced or absent tendon reflexes mainly in the lower limbs, and mild sensory impairment in the feet. Significant linkage to the CMT2A locus on chromosome 1p35-p36 was detected. Based on informative recombination in affected individuals, the authors mapped the CMT2A gene between D1S160 and D1S170.

Evaluation of Respiratory Muscle Strength and Pulmonary Function in Patients with Charcot-Marie-Tooth Disease Type 2

“…Most works that investigate the pulmonary function in CMT-assessed individuals with the demyelinating form of the disease once that the axonal form occurs only in 27% of all cases of CMT [6]. Nevertheless, it is still not known whether there is a higher predisposition of the demyelinating form in relation to the axonal form to develop respiratory failure.…”

“…CMT1 is the most common type of CMT, affecting around 70% of the cases. CMT2 is rarer, being observed in 10-15% of the CMT patients [6. ]…”

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction

“…22,23 Phosphorus spectroscopy ( 31 P-MRS). 31 P-MRS localized spectra were obtained from the visual cortex. Blocks of 16 FIDs were collected for each of three 7-minute periods-at rest, during visual stimulation, and after visual stimulation, as described.…”

Clinical features and molecular genetics of hereditary peripheral neuropathies

“…The mean age of onset is 20 years, and the mNCVs are nearly normal [24, 132,170]. The CMAPs are reduced.…”

“…The CMAPs are reduced. More than 10 families showing linkage to this locus are known [24,132,157,170]. Recently, a mutation in the KIF1Bß gene was found in a Japanese family with CMT2A [216].…”