Hereditary neuropathy
RSS feedCGG expansions in LRP12 implicated in hereditary peripheral neuropathies
A search for CGG repeats in the LRP12, GIPC and RILPL1 genes in 1555 cases of hereditary peripheral neuropathy without a genetic diagnosis found 44 cases of CGG repeats in the LRP12 gene (and none in the GIPC and RILPL1 genes): the number of CGG repeats, less than 100 in 93.2% of cases, ranged from … [Read more]
A natural history of TRPV4-related hereditary neuropathies
The Inherited Neuropathies Consortium reports the clinical data of 68 patients with TRPV4-related neuromuscular disease (Charcot-Marie-Tooth 2C disease, scapuloperoneal spinal muscular atrophy and congenital distal spinal muscular atrophy) collected as part of a natural history study (NCT01193075) conducted in the United States, Italy and the United Kingdom. The age of onset of TRPV4-related hereditary neuropathies … [Read more]
Advances in Charcot-Marie-Tooth disease – June 2024
Charcot-Marie-Tooth disease is a group of genetic diseases that cause damage to the peripheral nerves (nerves that connect the spinal cord to muscles and sensory organs) of the arms and legs (neuropathy). It is also known as hereditary motor and sensory neuropathy (HMSN). Common symptoms are muscle weakness and wasting in the legs (feet and … [Read more]
Inherited motor neurone diseases are not limited to amyotrophic lateral sclerosis
The team at the Centre de référence pour la sclérose latérale amyotrophique et pour les maladies neuromusculaires rares ‘AOC’ (Reference Centre for Amyotrophic Lateral Sclerosis and Rare Neuromuscular Diseases) is reporting on the diversity of the main hereditary motor neurone diseases throughout their history. Many were described as early as the end of the 19th … [Read more]
An update on distal hereditary motor neuropathies
This article reviews the various aspects (clinical, genetic, pathophysiological and therapeutic) of this group of heterogeneous inherited diseases characterized by slowly progressive pure distal motor neuropathy and normal motor and sensory conduction velocities. Over thirty genes are associated with these purely motor pathologies, which Harding classified into seven major clinical groups: four with autosomal dominant … [Read more]
A promising aldose reductase inhibitor in SORD-related neuropathy
Identified in 2020, the SORD gene is involved in a relatively frequent form of axonal CMT (CMT 2) and distal hereditary motor neuropathy (dHMN). It is involved in the transformation of sorbitol (toxic to nerves if accumulated in excess) into fructose. A European and American Phase III placebo-controlled clinical trial is evaluating AT-007, an aldose … [Read more]
Genetic analysis strategy in hereditary neuropathies
French clinicians, aiming to guide the genetic diagnosis of patients with hereditary peripheral neuropathy, have outlined in a review the clinical and neurophysiological aspects as well as the potential treatments of these diseases. Indeed, hereditary neuropathies are a heterogeneous group of disorders affecting the motor, sensory and/or autonomic nerves, the diagnosis of which can be … [Read more]
French experts develop gene panel to diagnose CMT, HSAN and dHMN neuropathies
Published in February 2022, guidelines for the genetic diagnosis of Charcot-Marie-Tooth disease and hereditary distal motor (dHMN) and sensory (HSAN) neuropathies were developed by the Diagnostic tools – molecular genetics subcommittee of the French Rare Health Care for Neuromuscular Diseases Network (FILNEMUS). They list : 81 genes involved in CMT (included 26 only suspected for the … [Read more]
German recommendations for the diagnosis of hereditary or acquired neuropathies in pediatrics
The heterogeneity of the etiologies to be sought is so wide that the diagnosis of neuropathy in a child or adolescent is not always easy. This led a consortium of German-speaking neuropediatricians to establish good practice recommendations emphasizing the following points: the study of the history and the clinical examination remain essential, the hypothesis of … [Read more]
