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.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117 Neurology
2017 ; 88
(13
): 1226-1234
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Genetic heterogeneity of motor neuropathies
#MMPMID28251916
Bansagi B
; Griffin H
; Whittaker RG
; Antoniadi T
; Evangelista T
; Miller J
; Greenslade M
; Forester N
; Duff J
; Bradshaw A
; Kleinle S
; Boczonadi V
; Steele H
; Ramesh V
; Franko E
; Pyle A
; Lochmüller H
; Chinnery PF
; Horvath R
Neurology
2017[Mar]; 88
(13
): 1226-1234
PMID28251916
show ga
OBJECTIVE: To study the prevalence, molecular cause, and clinical presentation of
hereditary motor neuropathies in a large cohort of patients from the North of
England. METHODS: Detailed neurologic and electrophysiologic assessments and
next-generation panel testing or whole exome sequencing were performed in 105
patients with clinical symptoms of distal hereditary motor neuropathy (dHMN, 64
patients), axonal motor neuropathy (motor Charcot-Marie-Tooth disease [CMT2], 16
patients), or complex neurologic disease predominantly affecting the motor nerves
(hereditary motor neuropathy plus, 25 patients). RESULTS: The prevalence of dHMN
is 2.14 affected individuals per 100,000 inhabitants (95% confidence interval
1.62-2.66) in the North of England. Causative mutations were identified in 26 out
of 73 index patients (35.6%). The diagnostic rate in the dHMN subgroup was 32.5%,
which is higher than previously reported (20%). We detected a significant defect
of neuromuscular transmission in 7 cases and identified potentially causative
mutations in 4 patients with multifocal demyelinating motor neuropathy.
CONCLUSIONS: Many of the genes were shared between dHMN and motor CMT2,
indicating identical disease mechanisms; therefore, we suggest changing the
classification and including dHMN also as a subcategory of Charcot-Marie-Tooth
disease. Abnormal neuromuscular transmission in some genetic forms provides a
treatable target to develop therapies.
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