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the 7th letter of the Roman alphabet (同)g

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1. アシュケナージ系ユダヤ人集団における遺伝的疾患の出生前スクリーニング prenatal screening for genetic disease in the ashkenazi jewish population
2. 症候性（二次性）ミオクローヌス symptomatic secondary myoclonus
3. 急性運動失調を呈する小児に対するアプローチ approach to the child with acute ataxia
4. 筋萎縮性側索硬化症およびその他の運動ニューロン疾患の診断 diagnosis of amyotrophic lateral sclerosis and other forms of motor neuron disease
5. 進行黒色腫に対するインターロイキン2および実験的免疫学的アプローチ interleukin 2 and experimental immunotherapy approaches for advanced melanoma

English Journal

Three novel mutations in Iranian patients with tay-sachs disease.

Jamali S, Eskandari N, Aryani O, Salehpour S, Zaman T, Kamalidehghan B, Houshmand M.Author information Dept. of Genetics, Special Medical Center, Tehran, Iran. massoudh@nigeb.ac.ir.AbstractBackground: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing mutations using PCR, followed by restriction enzyme digestion. Results: Molecular genetics analysis of DNA from 23 patients of TSD revealed mutations that has been previously reported, including four-base duplications c.1274_1277dupTATC in exon 11 and IVS2+1G>A, deletion TTAGGCAAGGGC in exon 10 as well as a few novel mutations, including C331G, which altered Gln>Glu in HEXB, A>G, T>C, and p.R510X in exon 14, which predicted a termination codon or nonsense mutation. Conclusion: In conclusion, with the discovery of these novel mutations, the genotypic spectrum of Iranian patients with TSD disease has been extended and could facilitate definition of disease-related mutations.
Iranian biomedical journal.Iran Biomed J.2014 Apr;18(2):114-9.
Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutat
PMID 24518553

Progressive myoclonic epilepsies: It takes a village to make a diagnosis.

Knupp K, Wirrell E.Author information From the University of Colorado (K.K.), Aurora; and Mayo Clinic (E.W.), Rochester, MN.AbstractThe progressive myoclonus epilepsies (PMEs) are a devastating group of rare disorders(1) that manifest with increasing action myoclonus, which is also present at rest but activates with stimuli such as noise, light, or touch. Ultimately, patients become wheelchair-bound and experience early death. Neurologic signs that frequently but not reliably coexist include other seizure types (particularly generalized tonic-clonic), progressive ataxia, and dementia. Typically, presentation is in late childhood or adolescence; however, all ages may be affected. Although distinction from more common forms of genetic generalized epilepsy, particularly juvenile myoclonic epilepsy, may be challenging early on, the presence or evolution of 1) progressive neurologic disability, 2) failure to respond to antiepileptic drug therapy, and 3) background slowing on EEG should suggest PME. Importantly, inappropriate therapy in the genetic generalized epilepsies may result in ataxia, impaired cognition, and uncontrolled seizures, which may mimic PME. PMEs should be distinguished from progressive encephalopathies with seizures (due to degenerative conditions such as GM2 gangliosidosis, nonketotic hyperglycinemia, Niemann-Pick type C, juvenile Huntington and Alzheimer disease) and progressive myoclonic ataxias, which affect predominantly adults with progressive ataxia, myoclonus, few if any tonic-clonic seizures, and without evidence of dementia.(2,3.)
Neurology.Neurology.2014 Feb 4;82(5):378-9. doi: 10.1212/WNL.0000000000000091. Epub 2014 Jan 2.
The progressive myoclonus epilepsies (PMEs) are a devastating group of rare disorders(1) that manifest with increasing action myoclonus, which is also present at rest but activates with stimuli such as noise, light, or touch. Ultimately, patients become wheelchair-bound and experience early death. N
PMID 24384640

Reversibility of neuropathology in Tay-Sachs-related diseases.

Cachón-González MB, Wang SZ, Ziegler R, Cheng SH, Cox TM.Author information Department of Medicine, University of Cambridge, Cambridge, UK and.AbstractThe GM2 gangliosidoses are progressive neurodegenerative disorders due to defects in the lysosomal β-N-acetylhexosaminidase system. Accumulation of β-hexosaminidases A and B substrates is presumed to cause this fatal condition. An authentic mouse model of Sandhoff disease (SD) with pathological characteristics resembling those noted in infantile GM2 gangliosidosis has been described. We have shown that expression of β-hexosaminidase by intracranial delivery of recombinant adeno-associated viral vectors to young adult SD mice can prevent many features of the disease and extends lifespan. To investigate the nature of the neurological injury in GM2 gangliosidosis and the extent of its reversibility, we have examined the evolution of disease in the SD mouse; we have moreover explored the effects of gene transfer delivered at key times during the course of the illness. Here we report greatly increased survival only when the therapeutic genes are expressed either before the disease is apparent or during its early manifestations. However, irrespective of when treatment was administered, widespread and abundant expression of β-hexosaminidase with consequent clearance of glycoconjugates, α-synuclein and ubiquitinated proteins, and abrogation of inflammatory responses and neuronal loss was observed. We also show that defects in myelination occur in early life and cannot be easily resolved when treatment is given to the adult brain. These results indicate that there is a limited temporal opportunity in which function and survival can be improved-but regardless of resolution of the cardinal pathological features of GM2 gangliosidosis, a point is reached when functional deterioration and death cannot be prevented.
Human molecular genetics.Hum Mol Genet.2014 Feb 1;23(3):730-48. doi: 10.1093/hmg/ddt459. Epub 2013 Sep 20.
The GM2 gangliosidoses are progressive neurodegenerative disorders due to defects in the lysosomal β-N-acetylhexosaminidase system. Accumulation of β-hexosaminidases A and B substrates is presumed to cause this fatal condition. An authentic mouse model of Sandhoff disease (SD) with pathological ch
PMID 24057669

Japanese Journal

Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan

RAHMAN Mohammad Mahbubur,YABUKI Akira,KOHYAMA Moeko [他]
The journal of veterinary medical science 76(2), 295-299, 2014-02
NAID 40019993537

Real-Time PCR Genotyping Assay for GM2 Gangliosidosis Variant 0 in Toy Poodles and the Mutant Allele Frequency in Japan

RAHMAN Mohammad Mahbubur,YABUKI Akira,KOHYAMA Moeko,MITANI Sawane,MIZUKAMI Keijiro,UDDIN Mohammad Mejbah,CHANG Hye-Sook,KUSHIDA Kazuya,KISHIMOTO Miori,YAMABE Remi,YAMATO Osamu
Journal of Veterinary Medical Science 76(2), 295-299, 2014
… GM2 gangliosidosis variant 0 (Sandhoff disease, SD) is a fatal, progressive neurodegenerative lysosomal storage disease caused by mutations of the HEXB gene. …
NAID 130003382367

Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB : application of simulation analysis

YASUI Naoko,TAKAOKA Yutaka,NISHIO Hisahide,NURPUTRA Dian K,SEKIGUCHI Kenji,HAMAGUCHI Hirotoshi,KOWA Hisatomo,MAEDA Eiichi,SUGANO Aki,MIURA Kenji,SAKAEDA Toshiyuki,KANDA Fumio,TODA Tatsushi
Journal of human genetics 58(9), 611-617, 2013-09-01
NAID 10031195298