Sensory neuropathy in children presenting with Behr syndrome due to OPA1 mutations (P2.035)

CONCLUSIONS To date, compound heterozygosity for OPA1 has been proven in only three patients from two unrelated families and neuropathy was not specifically assessed. This is therefore the first report demonstrating the occurrence of severe sensory neuropathy in such cases. Peripheral neuropathy sometimes represents a useful help in the diagnosis of a neurological or metabolic disease occurring in children. More precisely, the search for sensory neuropathy in children with optic atrophy can be quite helpful in orientating the genetic diagnosis. On the other hand, association of visual loss, cerebellar syndrome and sensory neuropathy may be related to quite different genes, such as ATPase 6 gene (NARP), but ophthalmological examination reveals retinal degeneration instead of optic atrophy.Disclosure: Dr. Pereon has nothing to disclose. Dr. Boyer has nothing to disclose. Dr. GITIAUX has nothing to disclose. Dr. Nicolas has nothing to disclose. Dr. Magot has nothing to disclose. Dr. Mayer has nothing to disclose. Dr. Barth has nothing to disclose. Dr. Bonneau has nothing to disclose. Dr. Rodriguez has nothing to disclose. Dr. Desguerre has nothing to disclose. Dr. Nguyen The Tich has nothing to disclose.
Source: Neurology - Category: Neurology Authors: Tags: Neuropathy: Genetics and Outcomes Source Type: research

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We describe MTPD as a newly hereditary etiology of sensory neuronopathy in adults, specifically in patients with c.1528G>C mutation. MTPD should be screened for by performing plasma acylcarnitines in patients with chronic sensory neuronopathy and additional suggestive features such as exercise intolerance or retinopathy. PMID: 32253025 [PubMed - as supplied by publisher]
Source: Revue Neurologique - Category: Neurology Tags: Rev Neurol (Paris) Source Type: research
We report a case of genetic compensation in the fourth generation (F4) of slc25a46 knockout zebrafish mutant, in contrast to a penetrant disease phenotype in the first generation (F0) slc25a46 mosaic mutant (crispant), generated with CRISPR/Cas-9 technology. We show that F0 crispant phenotype is specific and rescuable. By performing mRNA sequencing, we define significant changes in slc25a46 F4 mutant ’s gene expression profile, which are nearly not present in F0 crispants. We find that among the top candidates for the phenotypic compensation anxa6 gene stands out as a functionally relevant player in mitochondrial dyn...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Expression profiling by high throughput sequencing Danio rerio Source Type: research
Purpose of review Charcot–Marie–Tooth (CMT) disease and related disorders are the commonest group of inherited neuromuscular diseases and represent a heterogeneous group of disorders. This review will cover recent advances in genetic diagnosis and the evolving genetic and phenotype landscape of this disease group. We will review recent evidence of the increasingly recognized phenotypic overlap with other neurodegenerative conditions including hereditary spastic paraplegia, hereditary ataxias and mitochondrial diseases and highlight the importance of deep phenotyping to inform genetic diagnosis and prognosis. ...
Source: Current Opinion in Neurology - Category: Neurology Tags: PERIPHERAL NERVE AND NEURO-MUSCULAR JUNCTION DISEASE: Edited by Mary M. Reilly Source Type: research
AbstractSeveral genes related to mitochondrial functions have been identified as causative genes of neuropathy or ataxia. Cytochromec oxidase assembly factor 7 (COA7) may have a role in assembling mitochondrial respiratory chain complexes that function in oxidative phosphorylation. Here we identified four unrelated patients with recessive mutations inCOA7 among a Japanese case series of 1396 patients with Charcot-Marie-Tooth disease (CMT) or other inherited peripheral neuropathies, including complex forms of CMT. We also found that all four patients had characteristic neurological features of peripheral neuropathy and atax...
Source: Brain - Category: Neurology Source Type: research
Mitochondrial NAD kinase deficiency (NADK2D, OMIM #615787) is a rare autosomal recessive disorder of NADPH biosynthesis that can cause hyperlysinemia and dienoyl‐CoA reductase deficiency (DECRD, OMIM #616034). NADK2 deficiency has been reported in only three unrelated patients. Two had severe, unremitting disease; one died at 4 months and the other at 5 years of age. The third was a 10 year old female with CNS anomalies, ataxia, and incoordination. In two cases mutations in NADK2 have been demonstrated. Here, we report the fourth known case, a 15 year old female with normal intelligence and a mild clinical and biochemica...
Source: American Journal of Medical Genetics Part A - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research
Conclusions We report here the first patient carrying pathogenic mutations of COA7, causative of isolated COX deficiency and progressive neurological impairment. We also show that COA7 is a soluble protein localized to the matrix, rather than in the intermembrane space as previously suggested.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Open access, Genetic screening / counselling, Molecular genetics, Neuromuscular disease, Peripheral nerve disease, Memory disorders (psychiatry) Mitochondrial genetics Source Type: research
AbstractDefects in the respiratory chain or mitochondrial ATP synthase (complex V) result in mitochondrial dysfunction that is an important cause of inherited neurological disease. Two of the subunits of complex V are encoded byMT-ATP6 andMT-ATP8 in the mitochondrial genome. Pathogenic mutations inMT-ATP6 are associated with the Leigh syndrome, the syndrome of neuropathy, ataxia, and retinitis pigmentosa (NARP), as well as with non-classical phenotypes, whileMT-ATP8 is less frequently mutated in patients with mitochondrial disease. We investigated two adult siblings presenting with features of cerebellar ataxia, peripheral...
Source: Journal of Neurology - Category: Neurology Source Type: research
We describe management for different clinical symptoms, mechanism-based approaches, rehabilitation therapy, disease modifying therapy, future clinical trials and perspectives, genetic counseling and preimplantation genetic diagnosis.RESUMO As ataxias hereditárias representam um grupo complexo de doenças neurodegenerativas, e se caracterizam por ataxia cerebelar progressiva, associada a sinais e sintomas extra-cerebelares e sistêmicos, os quais incluem: neuropatia periférica, sinais piramidais, distúrbios do movimento, convulsões e disfunção cognitiva. Não existe...
Source: Arquivos de Neuro-Psiquiatria - Category: Neurology Source Type: research
Conclusions: Only a minority of patients with MTATP6 mutations present with the classical LS and NARP syndromes. The vast majority of patients have an ataxia, peripheral neuropathy, and cognitive dysfunction and these should be considered core features in patients with genetic defects in MTATP6.Disclosure: Dr. Martikainen has nothing to disclose. Dr. Ng has nothing to disclose. Dr. Gorman has nothing to disclose. Dr. Schaefer has nothing to disclose. Dr. Horvath has nothing to disclose. Professor Patrick F. Chinnery has received research support from Santhera Pharmaceuticals. Dr. Blakely has nothing to disclose. Dr. Alston...
Source: Neurology - Category: Neurology Authors: Tags: Movement Disorders: Ataxias and Other Hyperkinetic Movement Disorders Source Type: research
This article reviews conditions in which PN may coexist with parkinsonism.
Source: Journal of the Peripheral Nervous System - Category: Neurology Authors: Tags: Review Source Type: research
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