Symptomatic Charcot?Marie-Tooth? A pair of concordant monozygotic twins

Braathen, Geir J.; Sand, Jette C; Russell, Michael Bjørn

doi:10.1111/j.1600-0404.2006.00713.x

Cited by 3 publications

(2 citation statements)

References 13 publications

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“…35 A clinical course of disease very similar to each other is reported in identical twin brothers with a CMT1Alike clinical picture, suspected to result from toxic agents. 36 Our monozygotic twin cases confirm the well-known intrafamilial variability of the disease and give further evidence that other factors apart from genetics contribute to the clinical course.…”

Section: Discussionsupporting

confidence: 78%

Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 Gene

et al. 2014

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We report monozygotic twins, who presented with a clinical picture of Charcot-Marie-Tooth disease type 1 (CMT1) with bilateral foot drop, pes cavus, thoracic kyphosis, and scoliosis. Hereditary neuropathy with liability to pressure palsies (HNPP) showed up in one of them. Neurography showed demyelinating neuropathy, typical for CMT1, and transient conduction block in the ulnar nerve correlating with clinical ulnar palsy due to minor mechanical stress in only one of them. Genetic analysis revealed novel small de novo deletion c.407_418del12 in the PMP22 gene. Our patient shows the rarely reported combination of CMT1A and HNPP, caused by an in-frame deletion in the PMP22 gene. HNPP is in the majority of cases correlated with heterozygous deletion of the whole PMP22 gene or other mutations leading to functional haploinsufficiency. The cases give further evidence that pathogenesis of HNPP is not completely understood and can obviously result from existence of a defective protein, too. The intrafamiliar phenotypic variability, even in monozygotic twins, confirms the well-known fact that factors apart from genetics contribute to the clinical course.

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Section: Discussionsupporting

confidence: 78%

Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 Gene

et al. 2014

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“…Thus, familial cases with diabetes or pernicious anemia among others were excluded from the material. CMT phenocopies were excluded from the material .…”

Section: Methodological Considerationsmentioning

confidence: 99%

Genetic epidemiology of Charcot-Marie-Tooth disease

Braathen

2012

Acta Neurol Scand

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Charcot-Marie-Tooth disease is the most common inherited disorder of the peripheral nervous system with an estimated prevalence of 1 in 1214. CMT1 and CMT2 are equally frequent in the general population. The prevalence of PMP22 duplication and of mutations in Cx32, MPZ and MFN2 is 19.6%, 4.8%, 1.1% and 3.2%, respectively. The ratio of probable de novo mutations in CMT families was estimated to be 22.7%. Genotype- phenotype correlations for seven novel mutations in the genes Cx32 (2), MFN2 (3) and MPZ (2) are described. Two novel phenotypes were ascribed to the MFN2 gene, however further studies are needed to confirm that MFN2 mutations can cause CMT1 and dHMN.

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Current World Literature

2007

Current Opinion in Neurology

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Symptomatic Charcot?Marie-Tooth? A pair of concordant monozygotic twins

Cited by 3 publications

References 13 publications

Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 Gene

Overlap Phenotype between CMT1A and Hereditary Neuropathy with Liability to Pressure Palsies Caused by the Novel Small In-frame Deletion c.407_418del12 in PMP22 Gene

Genetic epidemiology of Charcot-Marie-Tooth disease

Current World Literature

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