Infantile Hereditary Neuropathy with Hypomyelination: Report of Two Siblings with Different Expressivity

Mr, Balestrini; Cavaletti, G; D’Angelo, Antonio; Tredici, G

doi:10.1055/s-2008-1071419

Cited by 17 publications

(3 citation statements)

References 12 publications

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“…CHN patients without onion bulbs died in early infancy/childhood, while those with onion bulbs survived, although severely handicapped. The lack of evidence for an active myelin breakdown together with hypomyelination, preservation of normal axons, paucity of onion bulbs, and absence of a demyelination‐remyelination process made CHN different from DSS . CHN is regarded as a primary hypomyelination of peripheral nerves due to a defect in the Schwann cell thus resulting in congenital impairment in myelin formation.…”

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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Section: Methodological Considerationsmentioning

confidence: 99%

Genetic epidemiology of Charcot-Marie-Tooth disease

Braathen

2012

Acta Neurol Scand

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“…DSS is on a continuum with congenital hypomyelinating neuropathy, which is at the most severe end of the CMT spectrum. Whereas DSS is generally associated with genetically mediated nerve demyelination/remyelination, congenital hypomyelinating neuropathy is associated with a primary deficiency of myelin production 2, 75…”

Section: Déjerine–sottas Syndromementioning

confidence: 99%

Autosomal‐recessive and X‐linked forms of hereditary motor and sensory neuropathy in childhood

2007

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The hereditary motor and sensory neuropathies (HMSNs, Charcot-Marie-Tooth neuropathies) are the most common degenerative disorders of the peripheral nervous system. In recent years a dramatic expansion has occurred in our understanding of the molecular basis and cell biology of the recessively inherited demyelinating and axonal neuropathies, with delineation of a number of new neuropathies. Mutations in some genes cause a wide variety of clinical, neurophysiologic, and pathologic phenotypes, rendering diagnosis difficult. The X-linked forms of HMSN represent at least 10%-15% of all HMSNs and have an expanded disease spectrum including demyelinating, intermediate, and axonal neuropathies, transient central nervous system (CNS) dysfunction, mental retardation, and hearing loss. This review presents an overview of the recessive and X-linked forms of HMSN observed in childhood, with particular reference to disease phenotype and neurophysiologic and pathologic abnormalities suggestive of specific diagnoses. These findings can be used by the clinician to formulate a differential diagnosis and guide targeted genetic testing.

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“…Families A [2] and C [23] have been reported in detail in previous papers. few steps with support from age 2 and reached the peak of her motor performance at age 5; but she has never been able to walk unaided.…”

Section: Second Seriesmentioning

confidence: 99%

Homozygous hypertrophic hereditary motor and sensory neuropathies

et al. 1994

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We compared 25 autosomal dominant hereditary motor and sensory neuropathy (HMSN) type I patients with 7 subjects affected by hypertrophic HMSN with non-dominant inheritance. All the autosomal dominant HMSN I cases carried the chromosome 17p11.2 duplication, providing evidence that it is widely represented in HMSN I families. The second group included: two siblings born to unrelated, unaffected parents and suffering from hypertrophic HMSN of strikingly different severity; two sisters with HMSN I phenotype, born to first-cousin unaffected parents; two brothers with HMSN III phenotype born to unrelated parents both showing HMSN II phenotype; a child with classic HMSN III phenotype, born to unrelated, unaffected parents. The 17p11.2 duplication was not found in any of the patients of the second series or in their parents. Our data provide further evidence that: HMSN III is heterogeneous and encompasses the homozygous expressions of different neuropathic genes; it is advisable to separate autosomal recessive hypertrophic HMSN from dominant HMSN Ia, because they appear to be due to different DNA mutations.

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Infantile Hereditary Neuropathy with Hypomyelination: Report of Two Siblings with Different Expressivity

Cited by 17 publications

References 12 publications

Genetic epidemiology of Charcot-Marie-Tooth disease

Genetic epidemiology of Charcot-Marie-Tooth disease

Autosomal‐recessive and X‐linked forms of hereditary motor and sensory neuropathy in childhood

Homozygous hypertrophic hereditary motor and sensory neuropathies

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