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A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype.
Arch Neurol. 1999 Oct; 56(10):1283-8.AN

Abstract

BACKGROUND

Three loci for autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1) have been identified on chromosomes 17p11.2 (CMT1A), 1q21-q23 (CMT1B), and 10q21.1-q22.1 (designated here as CMT1D). The genes involved are peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), and the early growth response element 2 (EGR2), respectively. Probably a fourth locus (CMT1C) exists since some autosomal dominant HMSN I families have been excluded for linkage with the CMT1A and CMT1B loci. Four loci for autosomal dominant hereditary motor and sensory neuropathy type II (HMSN II) or Charcot-Marie-Tooth disease type 2 (CMT2) have been localized on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), 7p14 (CMT2D), and 3p (HMSN-P).

OBJECTIVE

To describe the clinical, electrophysiologic, and neuropathological features of a novel type of Charcot-Marie-Tooth disease.

PATIENTS AND METHODS

We performed linkage studies with anonymous DNA markers flanking the known CMT1 and CMT2 loci. Patients and their relatives underwent clinical neurologic examination and electrophysiologic testing. In the proband, a sural nerve biopsy specimen was examined.

RESULTS

Linkage studies excluded all known CMT1 and CMT2 loci. The clinical phenotype is mild and almost all affected individuals remain asymptomatic. Electrophysiologic and histopathological studies showed signs of a demyelinating neuropathy, but the phenotype is unusual for either autosomal dominant HMSN I or HMSN II.

CONCLUSION

Our findings indicate that the HMSN in this family represents a novel clinical and genetic entity.

Authors+Show Affiliations

Department of Biochemistry, University Hospital Antwerp, Belgium. dejonghe@uia.ua.ac.beNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

10520946

Citation

De Jonghe, P, et al. "A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized By a Mild Phenotype." Archives of Neurology, vol. 56, no. 10, 1999, pp. 1283-8.
De Jonghe P, Timmerman V, Nelis E, et al. A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. Arch Neurol. 1999;56(10):1283-8.
De Jonghe, P., Timmerman, V., Nelis, E., De Vriendt, E., Löfgren, A., Ceuterick, C., Martin, J. J., & Van Broeckhoven, C. (1999). A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. Archives of Neurology, 56(10), 1283-8.
De Jonghe P, et al. A Novel Type of Hereditary Motor and Sensory Neuropathy Characterized By a Mild Phenotype. Arch Neurol. 1999;56(10):1283-8. PubMed PMID: 10520946.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A novel type of hereditary motor and sensory neuropathy characterized by a mild phenotype. AU - De Jonghe,P, AU - Timmerman,V, AU - Nelis,E, AU - De Vriendt,E, AU - Löfgren,A, AU - Ceuterick,C, AU - Martin,J J, AU - Van Broeckhoven,C, PY - 1999/10/16/pubmed PY - 1999/10/16/medline PY - 1999/10/16/entrez SP - 1283 EP - 8 JF - Archives of neurology JO - Arch Neurol VL - 56 IS - 10 N2 - BACKGROUND: Three loci for autosomal dominant hereditary motor and sensory neuropathy type I (HMSN I) or Charcot-Marie-Tooth disease type 1 (CMT1) have been identified on chromosomes 17p11.2 (CMT1A), 1q21-q23 (CMT1B), and 10q21.1-q22.1 (designated here as CMT1D). The genes involved are peripheral myelin protein 22 (PMP22), myelin protein zero (MPZ), and the early growth response element 2 (EGR2), respectively. Probably a fourth locus (CMT1C) exists since some autosomal dominant HMSN I families have been excluded for linkage with the CMT1A and CMT1B loci. Four loci for autosomal dominant hereditary motor and sensory neuropathy type II (HMSN II) or Charcot-Marie-Tooth disease type 2 (CMT2) have been localized on chromosomes 1p35-p36 (CMT2A), 3q13-q22 (CMT2B), 7p14 (CMT2D), and 3p (HMSN-P). OBJECTIVE: To describe the clinical, electrophysiologic, and neuropathological features of a novel type of Charcot-Marie-Tooth disease. PATIENTS AND METHODS: We performed linkage studies with anonymous DNA markers flanking the known CMT1 and CMT2 loci. Patients and their relatives underwent clinical neurologic examination and electrophysiologic testing. In the proband, a sural nerve biopsy specimen was examined. RESULTS: Linkage studies excluded all known CMT1 and CMT2 loci. The clinical phenotype is mild and almost all affected individuals remain asymptomatic. Electrophysiologic and histopathological studies showed signs of a demyelinating neuropathy, but the phenotype is unusual for either autosomal dominant HMSN I or HMSN II. CONCLUSION: Our findings indicate that the HMSN in this family represents a novel clinical and genetic entity. SN - 0003-9942 UR - https://www.unboundmedicine.com/medline/citation/10520946/A_novel_type_of_hereditary_motor_and_sensory_neuropathy_characterized_by_a_mild_phenotype_ L2 - https://jamanetwork.com/journals/jamaneurology/fullarticle/vol/56/pg/1283 DB - PRIME DP - Unbound Medicine ER -