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Title
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Reduced penetrance in hereditary motor neuropathy caused by **TRPV4** Arg269Cys mutation
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Author
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Abstract
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| Incomplete penetrance has rarely been reported in CharcotMarieTooth disease. Our aim is to describe reduced penetrance in a hereditary motor neuropathy pedigree due to mutation in the transient receptor potential vallinoid 4 (TRPV4) gene. The pedigree comprised two affected members, the proband aged 44 years and her affected daughter aged 7 years, and seven additional related subjects, three of whom were subclinical gene mutation carriers aged 9, 40 and 70 years. Clinico-electrophysiological studies, MRI of lower-limb musculature and genetic testing of the TRPV4 were performed. The proband presented with a moderate facio-scapulo-peroneal syndrome, whereas her symptomatic daughter suffered from severe congenital spinal muscular atrophy with arthrogryposis, laryngomalacia, and vocal cord paresis. Electrophysiological evaluation revealed a pure motor axonal neuropathy. In the proband, MRI showed extensive and widespread fatty atrophy of lower-leg musculature, whereas in thigh musculature there was just mild distal fatty infiltration of vastus lateralis. Genetic testing revealed a heterozygous Arg269Cys mutation in the TPRV4 gene. In all three mutation carriers results from clinical and electrophysiological examination, and MRI of foot and lower-leg musculature were normal. We conclude that non-penetrance may be an integral feature of neuropathic syndromes associated with TRPV4 gene mutation. |
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Language
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English
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Source (journal)
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Journal of neurology. - Berlin, 1974, currens
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Publication
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Berlin
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2011
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ISSN
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0340-5354
[print]
1432-1459
[online]
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DOI
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10.1007/S00415-011-5947-7
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Volume/pages
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258
:8
(2011)
, p. 1413-1421
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ISI
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000293411400003
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Full text (Publisher's DOI)
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Full text (publisher's version - intranet only)
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