4th Workshop of the European CMT-Consortium – 62nd ENMC International Workshop: Rare forms of Charcot-Marie-Tooth disease and related disorders. 16–18 October 1998, Soestduinen, The Netherlands

Martin, Jean‐Jacques; Brice, Alexis; Broeckhoven, Christine Van

doi:10.1016/s0960-8966(99)00017-6

Cited by 18 publications

(4 citation statements)

References 35 publications

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“…Testing for the CMT1A duplication can alone show an accurate molecular diagnosis in approximately half of all patients [11]. Autosomal recessive inheritance, however, is frequently observed in populations with a high rate of consanguineous marriages, and the incidence of AR-CMT is estimated to be 30-50% of all CMT forms in these populations [12]. In a cohort of 70 Turkish patients with demyelinating CMT, the CMT1A duplication rate was 30% whereas the AR-CMT mutation rate was 36% (unpublished data, Y. Parman, E. Battaloglu).…”

Section: What Do We Learn From Recent Developments In Cell Biology?mentioning

confidence: 99%

Hereditary neuropathies

Parman

2007

Current Opinion in Neurology

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Rapid advances in the molecular genetics and cell biology of hereditary neuropathies have highlighted the great genetic complexity of Charcot-Marie-Tooth disease. The evolution from a simple clinical classification to a complex molecular one has not facilitated our understanding of the disease. Moreover, the new molecular classification is not simple to use as different mutations of the same gene produce a range of phenotypes. The clinicians have to look for specific clinical and electrophysiological clues to direct the patient to appropriate genetic testing.

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Section: What Do We Learn From Recent Developments In Cell Biology?mentioning

confidence: 99%

Hereditary neuropathies

Parman

2007

Current Opinion in Neurology

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“…Autosomal recessive forms of Charcot-Marie-Tooth (ARCMT) account for less than 10% of the families in the European CMT population (Dubourg et al 2006). However, autosomal recessive (AR) inheritance is frequently observed populations in the Mediterranean basin and the Middle East with a high rate of consanguineous marriages, and the incidence of ARCMT is estimated to be 30-50% of all CMT forms in these populations (Martin et al 1999). …”

Section: Introductionmentioning

confidence: 99%

Novel GDAP1 Mutation in a Turkish Family with CMT2K (CMT2K with Novel GDAP1 Mutation)

et al. 2009

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Mutations in the ganglioside-induced differentiation-associated protein 1 gene (GDAP1) cause Charcot-Marie-Tooth type 2 (CMT2), a severe autosomal recessive form of neuropathy associated with axonal phenotypes. It has been screened in this study for the presence of mutations in the coding region of GDAP1, which maps to chromosome 8q21, in a family with CMT2. To date, 29 mutations in the GDAP1 have been reported in patients of different ethnic origins. Here, we report a novel missense mutation (c.836A>G), and two polymorphisms: a silent variant (c.102G>C), and a 5'-splice site mutation (IVS5+24C>T) in GDPA1 gene identified in a five generation Turkish family with autosomal recessive CMT2.

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“…Hereditary motor and sensory neuropathies (HMSN), also known as Charcot-Marie-Tooth syndrome (CMT), are a clinically and genetically heterogeneous group of peripheral neuropathies which can be inherited as an autosomal dominant, autosomal recessive or X-linked trait. The autosomal recessive forms (AR-CMT) account for less than 5% of the families with CMT in Western countries, but in countries with a high prevalence of consanguinity this mode of inheritance is estimated to account for 30–50% of all CMT phenotypes [5, 14]. Moreover, it has also been noted that in Western countries patients affected by AR-CMT may often appear as isolated cases because of the small size of the sibships [10].…”

Section: Introductionmentioning

confidence: 99%

“…Moreover, it has also been noted that in Western countries patients affected by AR-CMT may often appear as isolated cases because of the small size of the sibships [10]. As with dominant CMT subtypes, AR-CMT is classified as demyelinating (CMT1), axonal (CMT2), or intermediate (CMT intermediate) based on neurophysiological and nerve biopsy findings [14]. Usually the phenotype of AR-CMT is similar to the dominant forms but it is often severe and has an earlier age at onset [10].…”

Section: Introductionmentioning

confidence: 99%

Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

Auer‐Grumbach¹,

Fischer²,

Papić³

et al. 2008

Neuropediatrics

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Autosomal recessive Charcot-Marie-Tooth syndrome (AR-CMT) is often characterised by an infantile disease onset and a severe phenotype. Mutations in the ganglioside-induced differentiation-associated protein 1 (GDAP1) gene are thought to be a common cause of AR-CMT. Mutations in the periaxin (PRX) gene are rare. They are associated with severe demyelination of the peripheral nerves and sometimes lead to prominent sensory disturbances. To evaluate the frequency of GDAP1 and PRX mutations in early onset CMT, we examined seven AR-CMT families and 12 sporadic CMT patients, all presenting with progressive distal muscle weakness and wasting. In one family also prominent sensory abnormalities and sensory ataxia were apparent from early childhood. In three families we detected four GDAP1 mutations (L58LfsX4, R191X, L239F and P153L), one of which is novel and is predicted to cause a loss of protein function. In one additional family with prominent sensory abnormalities a novel homozygous PRX mutation was found (A700PfsX17). No mutations were identified in 12 sporadic cases. This study suggests that mutations in the GDAP1 gene are a common cause of early-onset AR-CMT. In patients with early-onset demyelinating AR-CMT and severe sensory loss PRX is one of the genes to be tested.

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4th Workshop of the European CMT-Consortium – 62nd ENMC International Workshop: Rare forms of Charcot-Marie-Tooth disease and related disorders. 16–18 October 1998, Soestduinen, The Netherlands

Cited by 18 publications

References 35 publications

Hereditary neuropathies

Hereditary neuropathies

Novel GDAP1 Mutation in a Turkish Family with CMT2K (CMT2K with Novel GDAP1 Mutation)

Two Novel Mutations in the GDAP1 and PRX Genes in Early Onset Charcot-Marie-Tooth Syndrome

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