Medizinische Universität Graz Austria/Österreich - Forschungsportal - Medical University of Graz
Gewählte Publikation:
SHR Neuro Krebs Kardio Lipid Stoffw Microb
Auer-Grumbach, M; Fischer, C; Papić, L; John, E; Plecko, B; Bittner, RE; Bernert, G; Pieber, TR; Miltenberger, G; Schwarz, R; Windpassinger, C; Grill, F; Timmerman, V; Speicher, MR; Janecke, AR.
Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.
Neuropediatrics. 2008; 39(1):33-38
Doi: 10.1055/s-2008-1077085
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- Führende Autor*innen der Med Uni Graz
- Auer-Grumbach Michaela
- Co-Autor*innen der Med Uni Graz
- Fischer Carina
- Papic Lea
- Pieber Thomas
- Plecko Barbara
- Speicher Michael
- Tieber Ida
- Windpassinger Christian
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- Abstract:
- 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.
- Find related publications in this database (using NLM MeSH Indexing)
- Age of Onset -
- Ataxia - pathology
- Charcot-Marie-Tooth Disease - epidemiology
- Charcot-Marie-Tooth Disease - genetics
- Charcot-Marie-Tooth Disease - pathology
- Child -
- Child, Preschool -
- Demyelinating Diseases - pathology
- Family Health -
- Female -
- Homozygote -
- Humans -
- Infant -
- Infant, Newborn -
- Male -
- Membrane Proteins - genetics
- Muscle Weakness - pathology
- Mutation -
- Nerve Tissue Proteins - genetics
- Peripheral Nerves - pathology
- Sensation Disorders - pathology
- Syndrome -
- Find related publications in this database (Keywords)
- AR-CMT
- GDAP1
- PRX
- early onset peripheral neuropathy