ArticleAnnals of clinical and translational neurology2022
Genetic spectrum in a cohort of patients with distal hereditary motor neuropathy.
Article in Annals of clinical and translational neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.
- Advances of NOTCH2NLC Repeat Expansions and Associated Diseases: A Bibliometric and Meta-analysis.Molecular neurobiology · 2024Pooled it
- Variable phenotypic manifestations of two splice-site variants in DNAJB2: insights from two families and a systematic review.Journal of human genetics · 2026Article
- Clinical and neurophysiological characterization of p.Gly59Ser mutation in DCTN1: a study in a Thai family and a brief review.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Review
- A novel variant of biallelic MME gene associated with autosomal recessive late-onset distal hereditary motor neuropathy in Chinese families.BMC medical genomics · 2024Article
- A novel mutation in SORD gene associated with distal hereditary motor neuropathies.BMC medical genomics · 2024Article
- NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patients.Scientific reports · 2023Article
- No Association between theJournal of clinical medicine · 2022Article
- The polyG diseases: a new disease entity.Acta neuropathologica communications · 2022Review
- Urine cytological study in patients with clinicopathologically confirmed neuronal intranuclear inclusion disease.Frontiers in aging neuroscience · 2022Article
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Authors and funding
12 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDistal hereditary motor neuropathy (dHMN) is a heterogeneous group of diseases characterized by exclusive degeneration of peripheral motor nerves, while only 20.0-47.8% of dHMN patients are genetically identified. Recently, GGC expansion in the 5'UTR of NOTCH2NLC has been associated with dHMN. Accordingly, short tandem repeat (STR) should be further explored in genetically unsolved patients with dHMN.
methodsA total of 128 patients from 90 unrelated families were clinically diagnosed as dHMN, and underwent a comprehensively genetic screening. Skin biopsies were conducted with routine protocols.
resultsMost patients showed chronic distal weakness of lower limbs (121/128), while 20 patients initially had asymmetrical involvements, 14 had subclinical sensory abnormalities, 11 had pyramidal impairments, five had cerebellar disturbance, and four had hyperCKmia. The rate of genetic detection was achieved in 36.7% (33/90), and the rate increased to 46.7% (42/90) if patients with variants uncertain significance were included. The most common causative genes included chaperone-related genes (8/33, 24.2%), tRNA synthetase genes (4/33, 12.1%), and cytoskeleton-related genes (4/33, 12.1%). Additionally, two dominant inherited families were attributed to abnormal expansion of GGC repeats in the 5'UTR of NOTCH2NLC; and a patient with dHMN and cerebellar symptoms had CAG repeat expansion in the ATXN2 gene. Skin biopsy from patients with GGC expansion in NOTCH2NLC revealed typical intranuclear inclusions on histological and ultrastructural examinations. INTERPRETATIONS: This study further extends the genetic heterogeneity of dHMN. Given some dHMN patients may be associated with nucleotides repeat expansion, STR screening is necessary to perform in genetically unsolved patients.
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