SORD-related peripheral neuropathy in a French and Swiss cohort: Clinical features, genetic analyses, and sorbitol dosages

Article Clinical Neurology

Juvenile amyotrophic lateral sclerosis associated with biallelic c.757delG mutation of sorbitol dehydrogenase gene

Emilien Bernard et al.

Summary: Mutations in the sorbitol dehydrogenase gene (SORD) have been associated with CMT, dHMN, and JALS. This case study reports a patient with a new mutation in SORD, expanding the clinical phenotype of SORD mutations.

AMYOTROPHIC LATERAL SCLEROSIS AND FRONTOTEMPORAL DEGENERATION (2022)

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Article Genetics & Heredity

A National French Consensus on Gene List for the Diagnosis of Charcot-Marie-Tooth Disease and Related Disorders Using Next-Generation Sequencing

Thibaut Benquey et al.

Summary: This paper focuses on the strategic use of next generation sequencing (NGS) for genetic diagnosis in patients with Charcot-Marie-Tooth disease (CMT) and non-syndromic inherited peripheral neuropathies (NSIPN). The French National Network for Rare Neuromuscular Diseases (FILNEMUS) genetic diagnosis section coordinated the efforts of seven French diagnosis laboratories to establish a unique and accurate gene classification system based on literature evidence. The study resulted in a consensus gene list for NSIPN, which includes three subgroups and has a good rate for molecular diagnostic use.

GENES (2022)

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Article Clinical Neurology

Long read sequencing overcomes challenges in the diagnosis of SORD neuropathy

Bianca R. Grosz et al.

Summary: This article aims to evaluate the utility of long-read sequencing in SORD neuropathy diagnosis and reports a case of CMT2 identified through long-read sequencing, expanding the phenotype associated with SORD mutations.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2022)

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Article Clinical Neurology

Distal hereditary motor neuropathies: Mutation spectrum and genotype-phenotype correlation

Marina Frasquet et al.

Summary: This study confirms the genetic heterogeneity of distal hereditary motor neuropathies and establishes biallelic SORD mutations as a cause of the disease in different populations. The study also reveals the genetic diagnostic rate, most common genetic mutations, and prevalence of the disease.

EUROPEAN JOURNAL OF NEUROLOGY (2021)

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Article Clinical Neurology

Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease

Ru-Ying Yuan et al.

Summary: The study confirmed SORD mutations as a causative factor for CMT and expanded the mutational and phenotypic spectrum of SORD-related CMT.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2021)

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Article Genetics & Heredity

Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

Hai-Lin Dong et al.

Summary: The SORD gene has been identified as a causative gene for dHMN, with two novel variants and one known variant found in four Chinese dHMN families. Functional studies confirmed the pathogenicity of these variants.

NPJ GENOMIC MEDICINE (2021)

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Article Clinical Neurology

Clinical and Genetic Features of Biallelic Mutations in SORD in a Series of Chinese Patients With Charcot-Marie-Tooth and Distal Hereditary Motor Neuropathy

Xiaoxuan Liu et al.

Summary: Biallelic mutations in the SORD gene are a common cause of autosomal recessive axonal Charcot-Marie-Tooth (CMT2) and distal hereditary motor neuropathy (dHMN) in a large Chinese cohort. Patients with SORD mutations present with distal weakness, atrophy in the lower limb, and some may also have minor clinical sensory abnormalities and small fiber neuropathy.

FRONTIERS IN NEUROLOGY (2021)

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Article Multidisciplinary Sciences

Biallelic variants in the SORD gene are one of the most common causes of hereditary neuropathy among Czech patients

P. Lassuthova et al.

Summary: Biallelic variants in the SORD gene have been identified as a causal factor for axonal hereditary neuropathy. The c.757del variant is highly prevalent in Czech patients, with SORD neuropathy being the third most common cause of autosomal recessive HN. Almost all patients presented with moderate pes cavus deformity.

SCIENTIFIC REPORTS (2021)

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Article Clinical Neurology

Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy

Marie Subreville et al.

Summary: This study retrospectively collected clinical and neurophysiological data of CMT patients with MPZ mutations in French reference centers. The results showed heterogeneous manifestations of MPZ mutations causing axonal or demyelinating neuropathy and different age groups. Patients with early and adult onset CMT had higher disease severity, which progressed with age. To optimize patient selection for upcoming trials, inclusion criteria should consider disease pathophysiology and select patients with mild to moderate severity and onset between 18 and 50 years.

EUROPEAN JOURNAL OF NEUROLOGY (2021)

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Article Genetics & Heredity