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Heterogeneity of hereditary motor and sensory neuropathy type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT).
Acta Neurol Scand. 1986 Aug; 74(2):145-9.AN

Abstract

21 members of a large kinship with autosomal dominant CMT showing typical clinical findings were studied electroneurographically, with visual evoked potentials (VEP) and with blood group markers. In clinically affected members, the mean motor nerve conduction velocity (NCV) of the median nerve was found to be 17.5 m/s (SD 2.4). Contrary to previous genetic linkage studies in CMT families with comparable slow motor NCV, blood group typing in this family excluded close linkage of HMSN I to Duffy locus, which may indicate the existence of another subgroup in CMT neuropathy. Mean latencies of VEP, in both clinically affected and unaffected members, showed no pathological alterations when compared to normals. There was no correlation between NCV and P 100 latencies, but significant variation of P 100 latencies in families of twin brothers could be demonstrated. As already suggested by other authors, our findings may also indicate heterogeneity in this neuropathy.

Authors

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

3022527

Citation

Leblhuber, F, et al. "Heterogeneity of Hereditary Motor and Sensory Neuropathy Type I (HMSN I): Electroneurographical Findings, Visual Evoked Potentials and Blood Group Markers in a Family With Charcot-Marie-Tooth Disease (CMT)." Acta Neurologica Scandinavica, vol. 74, no. 2, 1986, pp. 145-9.
Leblhuber F, Reisecker F, Mayr WR, et al. Heterogeneity of hereditary motor and sensory neuropathy type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT). Acta Neurol Scand. 1986;74(2):145-9.
Leblhuber, F., Reisecker, F., Mayr, W. R., & Deisenhammer, E. (1986). Heterogeneity of hereditary motor and sensory neuropathy type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT). Acta Neurologica Scandinavica, 74(2), 145-9.
Leblhuber F, et al. Heterogeneity of Hereditary Motor and Sensory Neuropathy Type I (HMSN I): Electroneurographical Findings, Visual Evoked Potentials and Blood Group Markers in a Family With Charcot-Marie-Tooth Disease (CMT). Acta Neurol Scand. 1986;74(2):145-9. PubMed PMID: 3022527.
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TY - JOUR T1 - Heterogeneity of hereditary motor and sensory neuropathy type I (HMSN I): electroneurographical findings, visual evoked potentials and blood group markers in a family with Charcot-Marie-Tooth disease (CMT). AU - Leblhuber,F, AU - Reisecker,F, AU - Mayr,W R, AU - Deisenhammer,E, PY - 1986/8/1/pubmed PY - 1986/8/1/medline PY - 1986/8/1/entrez SP - 145 EP - 9 JF - Acta neurologica Scandinavica JO - Acta Neurol. Scand. VL - 74 IS - 2 N2 - 21 members of a large kinship with autosomal dominant CMT showing typical clinical findings were studied electroneurographically, with visual evoked potentials (VEP) and with blood group markers. In clinically affected members, the mean motor nerve conduction velocity (NCV) of the median nerve was found to be 17.5 m/s (SD 2.4). Contrary to previous genetic linkage studies in CMT families with comparable slow motor NCV, blood group typing in this family excluded close linkage of HMSN I to Duffy locus, which may indicate the existence of another subgroup in CMT neuropathy. Mean latencies of VEP, in both clinically affected and unaffected members, showed no pathological alterations when compared to normals. There was no correlation between NCV and P 100 latencies, but significant variation of P 100 latencies in families of twin brothers could be demonstrated. As already suggested by other authors, our findings may also indicate heterogeneity in this neuropathy. SN - 0001-6314 UR - https://www.unboundmedicine.com/medline/citation/3022527/Heterogeneity_of_hereditary_motor_and_sensory_neuropathy_type_I__HMSN_I_:_electroneurographical_findings_visual_evoked_potentials_and_blood_group_markers_in_a_family_with_Charcot_Marie_Tooth_disease__CMT__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0001-6314&date=1986&volume=74&issue=2&spage=145 DB - PRIME DP - Unbound Medicine ER -