ReviewJournal of anatomy2002
Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients.
Review in Journal of anatomy, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 53 citations in OpenAlex.
- Pooled it
- Peripheral Myelin Protein-22 and Its Prominence in Charcot-Marie-Tooth Disease.Chemical reviews · 2026Review
- Identification and Targeted Correction of a PathogenicInternational journal of molecular sciences · 2026Article
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.Genes · 2026Review
- Novel mutation in theThe Journal of international medical research · 2022Article
- New evidence for secondary axonal degeneration in demyelinating neuropathies.Neuroscience letters · 2021Review
- [A genotyping study of 13 cases of early-onset Charcot-Marie-Tooth disease].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2019Article
- Dejerine-Sottas disease in childhood-Genetic and sonographic heterogeneity.Brain and behavior · 2018Article
- Genetic spectrum of hereditary neuropathies with onset in the first year of life.Brain : a journal of neurology · 2011Article
- A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.Annals of neurology · 2009Article
- Clinical utility of peripheral nerve biopsy.Current neurology and neuroscience reports · 2005Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Dejerine-Sottas syndrome (DSS) is an early onset demyelinating motor and sensory neuropathy with motor nerve conduction velocities below 12 m s(-1). The phenotype is genetically heterogeneous, and autosomal dominant (AD) as well as autosomal recessive (AR) inheritance is described. Nerve pathology is highly variable. It is generally presumed that clinical course is severe, leading to wheelchair dependency at an early age. In this study we documented the clinical and pathological features in 25 patients with a DSS and we evaluated the clinical course. In our series 14 patients had an AD mutation and six were probably affected by an AR disorder. In three patients inheritance mode was unknown and two patients obviously suffered from an acquired disorder. The clinical course in all patients was documented. Nine of the 25 patients showed a moderate handicap in adult life; walking distance was still at least 1 km. Age at last investigation of the ambulant patients ranged from 22 to 62 years (mean 38.6 years), and ambulant patients were found in all genetic subgroups. We conclude that DSS, although in general denoting a more serious neuropathy than CMT1, does not imply a severe disability or wheelchair dependency in adult life.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.