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1. 遺伝性運動失調の概要overview of the hereditary ataxias [show details]
…myoclonic seizures and progressive ataxia. ULD is discussed separately. Sialidosis (neuraminidase deficiency, mucolipidosis type I) is an autosomal recessive disorder characterized by a defect in the sialidase …
2. 先天性代謝異常：疫学、病因、および臨床的特徴inborn errors of metabolism epidemiology pathogenesis and clinical features [show details]
…gangliosidosis, Niemann-Pick disease type C, Farber disease, infantile-free sialic acid storage disease, sialidosis, galactosialidosis, mucolipidosis type II (I cell disease) Neonatal hemochromatosis Mitochondrial…
3. 律動眼振jerk nystagmus [show details]
…Toxicity from amiodarone or intravenous opioids . Inherited disorders of metabolism – Cherry-red spot myoclonus, X-linked adrenoleukodystrophy . Infectious causes – Viral encephalitis , herpes simplex…
4. ミオクローヌスの分類および評価classification and evaluation of myoclonus [show details]
…malabsorption disorders such as celiac sprue and Whipple disease Enzyme assays for neuraminidase deficiency (sialidosis) and biotinidase deficiency (multiple carboxylase deficiency) Evaluation for Wilson…
5. 症候性（二次性）ミオクローヌスsymptomatic secondary myoclonus [show details]
…progression is slower than in PME. The most frequent causes of PMA are Unverricht-Lundborg disease (ULD), sialidosis, celiac disease, mitochondrial disorders, certain spinocerebellar degenerations, and some late-onset …

English Journal

Identification of predominant GNPTAB gene mutations in Eastern Chinese patients with mucolipidosis II/III and a prenatal diagnosis of mucolipidosis II.

Wang Y, Ye J, Qiu WJ, Han LS, Gao XL, Liang LL, Gu XF, Zhang HW.
Acta pharmacologica Sinica. 2019 Feb;40(2)279-287.
Mucolipidosis II α/β, mucolipidosis III α/β, and mucolipidosis III γ are autosomal recessive disorders belonging to the family of lysosomal storage disorders caused by deficiency of the UDP-N-acetylglucosamine, a lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (GlcNAc-phosphotransfera
PMID 29872134

A genome-wide CRISPR screen identifies N-acetylglucosamine-1-phosphate transferase as a potential antiviral target for Ebola virus.

Flint M, Chatterjee P, Lin DL, McMullan LK, Shrivastava-Ranjan P, Bergeron É, Lo MK, Welch SR, Nichol ST, Tai AW, Spiropoulou CF.
Nature communications. 2019 01;10(1)285.
There are no approved therapies for Ebola virus infection. Here, to find potential therapeutic targets, we perform a screen for genes essential for Ebola virus (EBOV) infection. We identify GNPTAB, which encodes the α and β subunits of N-acetylglucosamine-1-phosphate transferase. We show that EBOV
PMID 30655525

Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases.

Faverio P, Stainer A, De Giacomi F, Gasperini S, Motta S, Canonico F, Pieruzzi F, Monzani A, Pesci A, Biondi A.
International journal of molecular sciences. 2019 Jan;20(2).
Lysosomal storage diseases (LSD) include a wide range of different disorders with variable degrees of respiratory system involvement. The purpose of this narrative review is to treat the different types of respiratory manifestations in LSD, with particular attention being paid to the main molecular
PMID 30650529

Japanese Journal

シアリドーシスI型(cherry-red spot-myoclonus症候群)成人発症同胞例

田名毅,小嶺幸弘,神里尚美,川副信行,柊山幸志郎
臨床神経学 35(7), 803-805, 1995-07-01
NAID 10008313598

Multimodality evoked potentials and EEG in a case of cherry red spot-myoclonus syndrome and alpha-neuraminidase deficiency (sialidosis type I)

LOUBOUTIN JP.
Eur Neurol 35, 175-177, 1995
NAID 30035058955

ヒトα-N-acetylgalactosaminidaseの分子生物学的研究

山内豊明,Yamauchi Toyoaki
新潟医学会雑誌 105(6), 393-409, 1991-06
… A sialidase deficiency has been described in several diseases including mucolipidosis I, cherry-red spot-myoclonus syndrome, galactosialidosis and I-cell disease. …
NAID 120005705869