CLN10 disease: MedlinePlus Genetics
ウェブCLN10 disease is a severe disorder that primarily affects the nervous system. Individuals with this condition typically show signs and symptoms soon after birth. These signs and symptoms can include muscle rigidity, respiratory failure, and prolonged episodes of seizure activity that last several minutes (status epilepticus).
神経セロイドリポフスチン症10 | 東京・ミネルバクリニック
ウェブ2024年3月12日 · 神経細胞性セロイドリポフスチン症-10（CLN10）は、カテプシンD遺伝子（CTSD；116840）のホモ接合体または複合ヘテロ接合体変異によって発症。細胞内に自家蛍光性リポ色素蓄積物質が異なるパターンで蓄積することによって特徴づけ
CLN10 disease - About the Disease - Genetic and Rare ...
ウェブNeuronal ceroid lipofuscinosis 10 (CLN10 disease) is a type of neuronal ceroid lipofuscinosis (NCL), a group of severe diseases that affect the nervous system. Signs and symptoms of CLN10 usually appear soon after birth. They may include muscle stiffness, respiratory failure, and seizures that last several minutes (status epilepticus).
Current and Emerging Treatment Strategies for Neuronal ...
ウェブ2019年3月15日 · Congenital CLN10 disease [] is associated with dysfunction of the lysosomal enzyme cathepsin D. Patients are born with microcephaly and seizures. The more frequent infantile CLN1 disease [ 5 ] is caused by mutations in CLN1 and is associated with dysfunction of the lysosomal enzyme palmitoyl protein thioesterase 1 …
CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 - OMIM
ウェブ2015年9月8日 · Clinical Synopsis. Phenotypic Series. PheneGene Graphics. TEXT. A number sign (#) is used with this entry because neuronal ceroid lipofuscinosis-10 (CLN10) is caused by homozygous or compound heterozygous mutation in the cathepsin D gene (CTSD; 116840) on chromosome 11p15. Description.
Emerging new roles of the lysosome and neuronal ceroid ...
ウェブ2019年1月16日 · Clinically, congenital NCL ( CLN10 disease) manifests with respiratory insufficiency after birth and status epilepticus, which are followed by death within hours to weeks ( [ 149] and references there in). The CLN10 gene encodes cathepsin D (CTSD; EC 3.4.23.5), an aspartic protease belonging to the pepsin superfamily.
Therapeutic landscape for Batten disease: current treatments ...
ウェブ2019年2月19日 · Batten disease is a family of primarily autosomal recessive, progressive neuropaediatric disorders, also known as neuronal ceroid lipofuscinoses (NCLs), characterized by seizures and visual,...
Lack of Cathepsin D in the central nervous system results in ...
ウェブ2022年7月8日 · CLN10 disease, an early infantile neuronal ceroid lipofuscinosis, is associated with a gene that encodes cathepsin D (CtsD), one of the major lysosomal proteases. Whole body CtsD-knockout mice...
CLN10 | The Neuronal Ceroid Lipofuscinoses (Batten Disease ...
ウェブ2011年3月1日 · This chapter covers the molecular genetics of the CLN10 gene, cell biology, clinical data, morphology, disease mechanism correlations, diagnosis, clinical management, and experimental therapy. Subject
Early infantile neuronal ceroid lipofuscinosis (CLN10 disease ...
ウェブEarly infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD. J Neurol. 2016 May;263 (5):1029-1032. doi: 10.1007/s00415-016-8111-6. Epub 2016 Apr 12. Authors.
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