AI Article Synopsis

  • Charcot-Marie-Tooth (CMT) disease is the most common inherited neurological disorder, and a study was conducted at a CMT clinic in Genova to analyze the genetic distribution of its subtypes among patients.
  • Out of 585 patients evaluated, 64.9% had demyelinating neuropathy and 35.1% had axonal neuropathy, with a genetic diagnosis made in 66% of cases, highlighting the most prevalent types: CMT1A (48%) and HNPP (14%).
  • A unique phenotype was noted, where patients initially showed lower limb involvement, termed "strictly length-dependent," suggesting that recognizing such distinct features could improve genetic diagnosis efforts in CMT.

Article Abstract

Charcot-Marie-Tooth (CMT) disease is the most commonly inherited neurological disorder. This study includes patients affected by CMT during regular follow-ups at the CMT clinic in Genova, a neuromuscular university center in the northwest of Italy, with the aim of describing the genetic distribution of CMT subtypes in our cohort and reporting a peculiar phenotype. Since 2004, 585 patients (447 index cases) have been evaluated at our center, 64.9% of whom have a demyelinating neuropathy and 35.1% of whom have an axonal neuropathy. A genetic diagnosis was achieved in 66% of all patients, with the following distribution: CMT1A (48%), HNPP (14%), CMT1X (13%), CMT2A (5%), and P0-related neuropathies (7%), accounting all together for 87% of all the molecularly defined neuropathies. Interestingly, we observe a peculiar phenotype with initial exclusive lower limb involvement as well as lower limb involvement that is maintained over time, which we have defined as a "strictly length-dependent" phenotype. Most patients with this clinical presentation shared variants in either or genes. The identification of distinctive phenotypes such as this one may help to address genetic diagnosis. In conclusion, we describe our diagnostic experiences as a multidisciplinary outpatient clinic, combining a gene-by-gene approach or targeted gene panels based on clinical presentation.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8948690PMC
http://dx.doi.org/10.3390/life12030402DOI Listing

Publication Analysis

Top Keywords

peculiar phenotype
8
genetic diagnosis
8
lower limb
8
limb involvement
8
clinical presentation
8
genetic
4
genetic workup
4
workup charcot-marie-tooth
4
charcot-marie-tooth neuropathy
4
neuropathy retrospective
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!