Clinical presentation is heterogeneous as is onset, which renders the diagnosis hard to make. [radiopaedia.org]

Poster session presented at: The 12th Annual WORLD Symposium; February – March 2016; San Diego, CA. [cln2connection.com]

Pulmonary disease is present in >80% of patients and is a major cause of morbidity and mortality ( 72 ). [ncbi.nlm.nih.gov]

[…] neurons obtained from mouse embryonic cerebral cortex at E16, Lysotracker red-positive acidic compartments were largely localized in cell bodies and dendrites at 10 days after the start of cultures (DIV), although such positive vesicles were abundantly present [jnss.org]

(See Epidemiology and Presentation.) NCL was later so named because of the accumulation of autofluorescent lipopigments resembling ceroid and lipofuscin seen in patients with the condition. [emedicine.medscape.com]

• Visual Impairment

  Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. Mol Genet Metab. 2019;126(2):188-95. doi: 10.1016/j.ymgme.2018.12.001. [ Links ] 3. [scielo.org.co]

  impairment / blind Von Hippel-Lindau syndrome Waardenburg syndrome Weaver syndrome Werner syndrome Williams syndrome Wilson disease (hepatolenticular degeneration) Xeroderma pigmentosum Zellweger syndrome Unknown conditions Other information: Adoption [kumc.edu]

• Visual Impairment

  Novel mutations in CLN6 cause late-infantile neuronal ceroid lipofuscinosis without visual impairment in two unrelated patients. Mol Genet Metab. 2019;126(2):188-95. doi: 10.1016/j.ymgme.2018.12.001. [ Links ] 3. [scielo.org.co]

  impairment / blind Von Hippel-Lindau syndrome Waardenburg syndrome Weaver syndrome Werner syndrome Williams syndrome Wilson disease (hepatolenticular degeneration) Xeroderma pigmentosum Zellweger syndrome Unknown conditions Other information: Adoption [kumc.edu]

• Seizure

  Congenital Neuronal Ceroid Lipofuscinosis: An Important Cause of Unexplained Seizures in Newborns. [link.springer.com]

  The condition is usually associated with congenital microcephaly, brain atrophy, respiratory insufficiency, neonatal seizures, and other clinical symptoms during the first days or weeks of life. [battendiseasenews.com]

  They may include muscle stiffness, respiratory failure, and seizures that last several minutes ( status epilepticus ). Infants with CLN10 disease have a small brain and small head ( microcephaly ). [rarediseases.info.nih.gov]

  They may include muscle stiffness, respiratory failure, and seizures that last several minutes (status epilepticus). Infants with CLN10 disease have a small brain and small head (microcephaly). They also have problems controlling their movements. [rarediseases.org]

  CLN3 can also cause seizures. No effective treatments for the disease are yet known. There is limited testing of potential therapies. Researchers want to study CLN3 more so they can improve future therapies. [clinicaltrials.gov]

• Convulsions

  She also did not preform many spontaneous movements due to low muscle tone in the arms and limbs, and had convulsions four hours after her birth. At age 3 days, a standard brain magnetic resonance imaging (MRI) was performed. [battendiseasenews.com]

Clinical Testing and Workup Enzymes assays are tests that measure the activity of specific enzymes. In some types of ANCL, reduced enzyme activity can be demonstrated on an assay. [rarediseases.org]

The mainstay of treatment is ERT. [ncbi.nlm.nih.gov]

Standard Therapies Treatment The treatment of adult neuronal ceroid lipofuscinosis is directed toward the specific symptoms that are apparent in each individual. There are no disease-specific treatments for ANCL yet. [rarediseases.org]

EDT Treatment Options for Congenital Corneal Opacities: Peters Anomaly/Sclerocornea Ken Nischal, MD, FRCOphth Friday, June 21, 2019 2 to 3 p.m. [rarediseaseday.org]

At this time, there are no effective treatment options for CLN10 disease. [rarediseases.info.nih.gov]

雑誌 Brain Dev 31:499-502 (2009) DOI: 10.1016/j.braindev.2008.12.008 文献 PMID: 18668166 (treatment/ drug) 著者 Pierret C, Morrison JA, Kirk MD タイトル Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses. [genome.jp]

Although there were no unexpected serious adverse events that were unequivocally attributable to the AAV2CU hCLN2 vector, there were serious adverse effects, the etiology of which could not be determined under the conditions of the experiment. [liebertpub.com]

(See Etiology.) [1, 2, 3] Classification The neuronal ceroid lipofuscinoses (NCLs) originally were defined by their age of onset and clinical symptoms. [emedicine.medscape.com]

Epidemiology Occurrence in the United States Estimates suggest that approximately 25,000 families in the United States are affected with a form of NCL. [emedicine.medscape.com]

The epidemiology of progressive intellectual and neurological deterioration in childhood. Arch Dis Child. 2010;95:361–4. [ncbi.nlm.nih.gov]

Mucopolysaccharidosis VI: pathophysiology, diagnosis and treatment. Front Biosci (Landmark Ed) 2017; 22 :385-406. 10.2741/4490 [ PubMed ] [ CrossRef ] [ Google Scholar ] 26. Montaño AM, Lock-Hock N, Steiner RD, et al. [ncbi.nlm.nih.gov]

In mice carrying a PPT1 mutation, NtBuHA prevented neuronal cell loss, mitigated behavioral deterioration and increased survival rates. [natureasia.com]

[…] after early infancy is also shortened, but varies based on when their symptoms began. [1] CLN10 disease is caused by changes ( mutations ) in the CTSD gene and inheritance is autosomal recessive. [1] [3] If the disease-causing genetic change completely prevents [rarediseases.info.nih.gov]

[…] early infancy is also shortened, but varies based on when their symptoms began.[14051] CLN10 disease is caused by changes (mutations) in the CTSD gene and inheritance is autosomal recessive.[14051][9569] If the disease-causing genetic change completely prevents [rarediseases.org]

[…] syndrome patient and development an efficient method for detecting CDKL5 activity The European Human Genetics Conference 2019 2019/06/16 2 Cdkl5ノックアウトP19細胞に対する漢方薬「抑肝散」の神経分化促進作用 第４1回　日本分子生物学会年会 2018/11/28 3 Eldecalcitol, a vitamin D analogue, for diabetes prevention [research-db.ritsumei.ac.jp]