Hereditary motor and sensory neuropathy type VI with optic atrophy

Voo, Irene; Allf, Bryan E.; Udar, Nitin; Silva‐Garcia, Rosamaria; Vance, Jeffery M.; Small, Kent W.

doi:10.1016/s0002-9394(03)00390-8

Cited by 32 publications

(21 citation statements)

References 17 publications

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“…Moreover, incomplete penetrance has been reported previously in HMSN VI. 15 In three nuclear families (CMT-5, CMT-52, and CMT-11), all patients showed very similar interfamilial clinical courses, suggesting a close genotype-phenotype correlation, although the number of affected individuals was limited.…”

Section: Discussionmentioning

confidence: 93%

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Züchner

Jonghe

Jordanova

et al. 2006

Annals of Neurology

320

223

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MFN2 is a mitochondrial membrane protein that was recently reported to cause axonal CMT type 2A. It is intriguing that MFN2 shows functional overlap with optic atrophy 1 (OPA1), the protein underlying the most common form of autosomal dominant optic atrophy, and mitochondrial encoded oxidative phosphorylation components as seen in Leber's hereditary optic atrophy. We conclude that autosomal dominant HMSN VI is caused by mutations in MFN2, emphasizing the important role of mitochondrial function for both optic atrophies and peripheral neuropathies.

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Section: Discussionmentioning

confidence: 93%

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Züchner

Jonghe

Jordanova

et al. 2006

Annals of Neurology

320

223

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“…In dHMN-V associated with GARS G526R mutation one of the 16 reported patients, aged 49 years, had neither clinical nor electrophysiological abnormalities [12]. Incomplete penetrance has also been reported in HMSN type VI with associated optic atrophy [29]; in one pedigree caused by MFN2 mutation there was incomplete penetrance of visual impairment, whereas the CMT phenotype was expressed in all mutation carriers [32]. In a large CMT2A pedigree caused by MNF2 V273G mutation, approximately one quarter of individuals with the mutation presented with features mild enough as to remain occult even with electrophysiological evaluation [23].…”

Section: Discussionmentioning

confidence: 98%

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

et al. 2011

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Incomplete penetrance has rarely been reported in Charcot-Marie-Tooth 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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“…There exist, however, some reports of HMSN with features that do not fit Dick's original classification, 9 either because of a combination of manifestations 18 or the association of symptoms as mental retardation, 17,19 thin corpus callosum, 20 and glaucoma. 21,22 MacDermot and Walker 19 describe three adults from an inbred family affected by axonal neuropathy, mental retardation, pyramidal signs, and congenital optic atrophy.…”

Section: Discussionmentioning

confidence: 99%

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

Macedo‐Souza

Kok

Santos

et al. 2005

Annals of Neurology

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We report an autosomal recessive neurodegenerative disorder in 25 white members from a large inbred Brazilian family, 22 of whom were evaluated clinically. This condition is characterized by (1) subnormal vision secondary to apparently nonprogressive congenital optic atrophy; (2) onset of progressive spastic paraplegia in infancy; (3) onset of progressive motor and sensory axonal neuropathy in late childhood/early adolescence; (4) dysarthria starting in the third decade of life; (5) exacerbated acoustic startle response; and (6) progressive joint contractures and spine deformities. Motor handicap was severe, and all patients were wheelchair bound after 15 years old. We performed a genome-wide screen including 25 affected individuals and 49 of their unaffected relatives. Linkage was detected at 11q13 region with a maximum logarithm of odds score of +14.43, obtained with marker D11S1883. The candidate region, which lies between D11S1908 and D11S1889, encompasses approximately 4.8Mb and has more than 100 genes and expressed sequences. We propose the acronym SPOAN (spastic paraplegia, optic atrophy, and neuropathy) for this complex syndrome.

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Hereditary motor and sensory neuropathy type VI with optic atrophy

Cited by 32 publications

References 17 publications

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Axonal neuropathy with optic atrophy is caused by mutations in mitofusin 2

Reduced penetrance in hereditary motor neuropathy caused by TRPV4 Arg269Cys mutation

Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13

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