Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q

Othmane, Kamel Ben; Hentatl, F.; Lennon, Felicia; Hamida, Christiane Ben; S, Blel; Roses, A. D.; Pericak‐Vance, Margaret A; Hamida, M. Ben; Vance, Jeffery M.

doi:10.1093/hmg/2.10.1625

Cited by 165 publications

(84 citation statements)

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“…Consistent with the phenotype previously reported, 8,9 our patients had early onset of weakness with muscle wasting leading to disability by the second decade of life and suffered from a hoarse voice and/or vocal cord paresis. The frequent vocal cord dysfunction may be a signature feature of GDAP1-associated neuropathy.…”

Section: Discussionsupporting

confidence: 90%

CMT4A: Identification of a Hispanic GDAP1 founder mutation

Boerkoel¹,

Takashima²,

Nakagawa³

et al. 2003

Annals of Neurology

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Mutations of the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause autosomal recessive Charcot-Marie-Tooth disease type 4A. We report four additional families with recessive mutations (487C-->T, Q163X; 359G-->A, R120Q) of GDAP1; Q163X occurred in three unrelated Hispanic families that had the same haplotype suggesting a Spanish founder mutation. Both the Q163X and the R120Q mutation cause demyelination and axonal loss. The patients had symptoms within the first two years of life and involvement of cranial, sensory, and enteric nerves. Neuropathology showed loss of large myelinated fibers, onion bulb formations and focal folding of the outer myelin lamina.

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Section: Discussionsupporting

confidence: 90%

CMT4A: Identification of a Hispanic GDAP1 founder mutation

Boerkoel¹,

Takashima²,

Nakagawa³

et al. 2003

Annals of Neurology

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“…The heterogeneous category of hereditary motor and sensory neuropathies consists of a large number of clinically and genetically distinct conditions (recently reviewed in Keller and Chance [1999] and Schenone and Mancardi [1999]), including autosomal recessive forms, some of which have been placed on the human genetic map (Ben Othmane et al 1993;Bolino et al 1996;Casaubon et al 1996;LeGuern et al 1996;Bouhouche et al 1999). Relative to autosomal dominant CMT disease, these conditions are rare.…”

Section: Discussionmentioning

confidence: 99%

N‐MYC Downstream‐Regulated Gene 1 Is Mutated In Hereditary Motor And Sensory Neuropathy‐LOM

Kalaydjieva¹,

Gresham²,

Gooding³

et al. 2001

J Peripheral Nervous Sys

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Citation for published version (APA):Kalaydjieva, L., Gresham, D., Gooding, R., Heather, L., Baas, F., de Jonge, R., ... Thomas, P. K. (2000). N-myc downstream-regulated gene 1 is mutated in hereditary motor and sensory neuropathy-Lom. American Journal of Human Genetics, 67, 47-58. General rightsIt is not permitted to download or to forward/distribute the text or part of it without the consent of the author(s) and/or copyright holder(s), other than for strictly personal, individual use, unless the work is under an open content license (like Creative Commons). Disclaimer/Complaints regulationsIf you believe that digital publication of certain material infringes any of your rights or (privacy) interests, please let the Library know, stating your reasons. In case of a legitimate complaint, the Library will make the material inaccessible and/or remove it from the website. Please Ask the Library: http://uba.uva.nl/en/contact, or a letter to: Library of the University of Amsterdam, Secretariat, Singel 425, 1012 WP Amsterdam, The Netherlands. You will be contacted as soon as possible. Download date: 11 May 2018Am. J. Hum. Genet. 67:47-58, 2000 47 Hereditary motor and sensory neuropathies, to which Charcot-Marie-Tooth (CMT) disease belongs, are a common cause of disability in adulthood. Growing awareness that axonal loss, rather than demyelination per se, is responsible for the neurological deficit in demyelinating CMT disease has focused research on the mechanisms of early development, cell differentiation, and cell-cell interactions in the peripheral nervous system. Autosomal recessive peripheral neuropathies are relatively rare but are clinically more severe than autosomal dominant forms of CMT, and understanding their molecular basis may provide a new perspective on these mechanisms. Here we report the identification of the gene responsible for hereditary motor and sensory neuropathy-Lom (HMSNL). HMSNL shows features of Schwann-cell dysfunction and a concomitant early axonal involvement, suggesting that impaired axonglia interactions play a major role in its pathogenesis. The gene was previously mapped to 8q24.3, where conserved disease haplotypes suggested genetic homogeneity and a single founder mutation. We have reduced the HMSNL interval to 200 kb and have characterized it by means of large-scale genomic sequencing. Sequence analysis of two genes located in the critical region identified the founder HMSNL mutation: a premature-termination codon at position 148 of the N-myc downstream-regulated gene 1 (NDRG1). NDRG1 is ubiquitously expressed and has been proposed to play a role in growth arrest and cell differentiation, possibly as a signaling protein shuttling between the cytoplasm and the nucleus. We have studied expression in peripheral nerve and have detected particularly high levels in the Schwann cell. Taken together, these findings point to NDRG1 having a role in the peripheral nervous system, possibly in the Schwann-cell signaling necessary for axonal survival. N-myc Downstream-Regulated Gene 1 Is Muta...

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“…Based on electrophysiological and pathological criteria, this group has been temptatively subdivided into three groups: CMT4A, characterised by slow motor nerve conduction velocities and nerve biopsy findings of hypomyelination; CMT4B with slow motor nerve conduction velocities and focally folded myelin sheaths; and CMT4C defined by preserved motor nerve conduction velocities and absence of myelin changes in nerve biopsy. CMT4A and CMT4B forms have been linked to chromosomes 8q13-21.2 4 and 11q23.1 5 , respectivelly. Not surprising, two recent reports of CMT4 demyelinating type affected families have pointed out two other locations: chromosome 5q23-q33 6 and chromosome 8q24 7 .…”

Section: Discussionmentioning

confidence: 99%

Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family

Arruda

Comerlato

Scola

et al. 1999

Arq. Neuro-Psiquiatr.

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We report three siblings of a family with hereditary motor and sensory polyneuropathy (HMSN) and buphthalmos. Electrophysiological studies showed a demyelinating neuropathy and pathological findings showed severe loss of myelinated fibers (MF), thin myelin sheaths and myelin infoldings in a few remaining MF. The presumed mode of inheritance is autosomal recessive. This family probably represents an unique form of CMT4 that may be related to one of the congenital glaucoma genic locus, particularly GLC3A and GLC3B, described in Turkish families.

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Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q

Cited by 165 publications

References 0 publications

CMT4A: Identification of a Hispanic GDAP1 founder mutation

CMT4A: Identification of a Hispanic GDAP1 founder mutation

N‐MYC Downstream‐Regulated Gene 1 Is Mutated In Hereditary Motor And Sensory Neuropathy‐LOM

Hereditary motor and sensory neuropathy with congenital glaucoma: report on a family

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