Neurodegeneration with brain iron accumulation (NBIA) is a group of genetic disorders with a progressive extrapyramidal syndrome and excessive iron deposition in the brain, particularly in the globus ...pallidus and substantia nigra. Mitochondrial membrane protein-associated neurodegeneration (MPAN), a subtype of NBIA, is caused by mutation in the orphan gene C19orf12. A slowly progressive gait disorder from generalized dystonia and spasticity and cognitive impairment constitute the main features of MPAN. The C19orf12 p.Thr11Met mutation is frequent among Turkish patients with MPAN. Here, we report the clinical manifestations and genetic study results of six Turkish patients with MPAN due to different mutations from previous.
Complete blood count, serum biochemistry, lipid profile, thyroid function tests, and serum Vitamin E and B12 levels were all normal. ...of the clinical exome analysis, we identified a novel missense ...homozygous mutation at the FA2H gene (c.130C>T p. Pro44Ser p. P44S) which has not been reported previously. 8 FA2H gene encodes FA2H, a 372-amino-acid-long membrane-bound protein incorporated into the ceramide species which is necessary for the production of normal myelin.
Laboratory evaluation revealed normal liver and renal function tests and thyroid hormone levels. Metabolic investigations including serum quantitative aminoacid levels and acylcarnitine profile, ...blood lactate and pyruvate levels and their ratio, very long-chain fatty acid (VLCFA), phytanic and pristanic acid levels, serum ammonia, and urine organic acid analysis were totally normal. ...although it is a rare neurometabolic disease, D-BP deficiency should be in the differential diagnosis of resistant epilepsy, neonatal hypotonia, and developmental delay.
Giant axonal disease: Report of eight cases Incecik, Faruk; Herguner, Ozlem M; Ceylaner, Serdar ...
Brain & development (Tokyo. 1979),
09/2015, Volume:
37, Issue:
8
Journal Article
Peer reviewed
Abstract Background Giant axonal neuropathy (GAN) is an autosomal recessive inherited progressive motor and sensory neuropathy with typical onset in early childhood. The disease is caused by GAN gene ...mutations on chromosome 16q24.1. To determine clinical and genetic results in Turkish patients with GAN. Methods Eight children with GAN were retrospectively analyzed. Five (62.5%) were girls and 3 (37.5%) were boys with the mean age on admission 10.13 ± 3.8 years (range: 5–15 years). Results Parental consanguinity was found in all the families. The patients had the classical clinical phenotype characterized by a severe axonal neuropathy with kinky hair. Two patients had contractures of extremities, and not walking. One patient was walking with aid. The other patients were walking without aid. Mutation analysis was performed in two patients and IVS9 (+1G > T) (homozygous) mutation was detected. Conclusion The classical clinical findings allowed considering the GAN diagnosis, but, in atypical cases and milder phenotypes, the presence of giant axons in nerve biopsy was helpful to specify molecular analysis.
Abstract Background Childhood absence epilepsy (CAE) is a well-known syndrome with onset in middle childhood and is characterized by multiple typical absences per day. Pharmacological treatment is ...specific and usually successful with a single medication. The goal of the study was to assess on risk factors associated with failure to respond to the initial antiepileptic drug (AED). Methods Fifty-two children with CAE were enrolled. Predictive factors were analyzed by survival methods. Results Among 52 patients, 32 patients (61.5%) were girls and the remaining 20 (38.5%) were boys and the mean age at the seizure onset was 6.5 ± 1.78 years old (3–11.5 years). Of the 52 patients, 42 (80.8%) were treated relatively successfully with the first AED treatment (Group A), and 10 (19.2%) were not responsed (Group B). Age of seizure onset, coexisting other types of seizures, and photoconvulsive EEG response were significantly associated with failure risk according to univariate analysis. In the multivariate analysis, only photoconvulsive EEG response was the risk factor influencing poor response to initial AED treatment. Conclusion Factors predicting failure to respond to the AED were age of seizure onset, coexisting other types of seizures, and photoconvulsive EEG response in children with CAE.
Complex IV is the final component of the respiratory chain and is responsible for the reduction of molecular oxygen and oxidation of cytochrome C.1 Several disorders have been reported ...encephalopathies, myopathies, and liver disease to Leigh's syndrome, and metabolic acidosis that associated with mutations of both nuclear and mitochondrial complex IV in the literature. The results of complete blood counting, uric acid, folic acid, vitamin B12, alpha-fetoprotein, and ceruplasmin were in the normal range. ...of the clinical exome analysis, a homozygous mutation at the COX20 gene (c. 190A > C; pT64P) was identified, which is related to his clinical findings.
Three prime repair exonuclease 1 (TREX1) degrades single- and double-stranded DNA with 3'-5' exonuclease activity. TREX1 mutations are related to type 1 interferon-mediated autoinflammation owing to ...accumulated intracellular nucleic acids. Several cases of systemic lupus erythematosus, Aicardi-Goutieres syndrome (AGS), familial chilblain lupus (FCL), and retinal vasculopathy-cerebral leukodystrophy caused by TREX1 mutations have been reported, so far. In this report, we described five patients with TREX1 mutations from three families with three different disorders, which include AGS, FCL, and FCL with central nervous system vasculitis.
Spinocerebellar ataxia-21 in a Turkish child Incecik, Faruk; Herguner, Ozlem; Willems, Patrick ...
Annals of Indian Academy of Neurology,
01/2018, Volume:
21, Issue:
1
Journal Article
Peer reviewed
Open access
Hereditary cerebellar ataxias are genetically heterogeneous disorders. Autosomal recessive spinocerebellar ataxia-21 (SCAR21) is a neurologic disorder characterized by the onset of cerebellar ataxia, ...recurrent episodes of liver failure, peripheral neuropathy, and learning disabilities. Herein, we reported a case presented with gait and balance problems, swallowing difficulties, mild delayed motor development, and mild learning disability with SCAR21 that confirmed by mutation analysis in a Turkish child. To the best of our knowledge, this is the first case of SCAR21 from Turkey.
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