Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

被引：16

作者：

Jerath, Nivedita U. ^{[1
,2
]}

Mankodi, Ami ^{[3
]}

Crawford, Thomas O. ^{[4
]}

Grunseich, Christopher ^{[3
]}

Baloui, Hasna ^{[5
,6
]}

Nnamdi-Emeratom, Chioma ^{[3
]}

Schindler, Alice B. ^{[3
]}

Heiman-Patterson, Terry ^{[7
]}

Chrast, Roman ^{[5
,6
]}

Shy, Michael E. ^{[1
]}

机构：

[1] Univ Iowa, Carver Coll Med, Dept Neurol, 200 Hawkins Dr, Iowa City, IA 52242 USA

[2] Univ Florida, Dept Neurol, POB 100236, Gainesville, FL 32610 USA

[3] NINDS, Neurogenet Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA

[4] Johns Hopkins Univ, Dept Pediat Neurol, Baltimore, MD USA

[5] Karolinska Inst, Dept Neurosci, Stockholm, Sweden

[6] Karolinska Inst, Dept Clin Neurosci, Stockholm, Sweden

[7] Drexel Univ, Coll Med, Dept Neurol, Philadelphia, PA 19104 USA

来源：

MUSCLE & NERVE | 2018年 / 57卷 / 05期

关键词：

autosomal recessive; Charcot-Marie Tooth disease; CMT4C; hereditary motor and sensory neuropathy; SH3TC2; PHENOTYPIC VARIABILITY; SH3TC2; NEUROPATHY; PROTEIN; MYELINATION; GENE; DEFICIENCY; CMT4C;

D O I：

10.1002/mus.25981

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

IntroductionThis study analyzes and describes atypical presentations of Charcot-Marie-Tooth disease type 4C (CMT4C). MethodsWe present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of SH3TC2. ResultsAll patients manifested scoliosis, and nerve conduction study indicated results in the demyelinating range. All patients exhibited signs of motor impairment within the first years of life. We describe 2 or more different genetic diseases in the same patient, atypical presentations of CMT, and 3 new mutations in CMT4C patients. DiscussionA new era of unbiased genetic testing has led to this small case series of individuals with CMT4C and highlights the recognition of different genetic diseases in CMT4C patients for accurate diagnosis, genetic risk identification, and therapeutic intervention. The phenotype of CMT4C, in addition, appears to be enriched by a number of features unusual for the broad CMT category. Muscle Nerve57: 749-755, 2018

引用

页码：749 / 755

页数：7

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