Median age at presentation to the reporting paediatrician: 7 years 9 months. [adc.bmj.com]

Vision Loss as the Presenting Sign in Juvenile Neuronal Ceroid Lipofuscinosis Page Metadata Title Vision Loss as the Presenting Sign in Juvenile Neuronal Ceroid Lipofuscinosis Creator Bohra, LI; Weizer, JS; Lee, AG; Lewis, RA Affiliation Cullen Eye Institute [collections.lib.utah.edu]

Furthermore, these two cases had CLN5 mutation which usually presents as vLINCL and presented with typical phenotype of CLN5. Case 3 had a different granular inclusion body. [pediatricneurosciences.com]

We update Batten disease research, particularly as it relates to the eye, and present various theories on the pathophysiology of retinal degeneration. [ncbi.nlm.nih.gov]

The condition may be diagnosed through clinical symptoms and special tests including studies that look at samples of the skin to identify patterns present in CLN3. [diseaseinfosearch.org]

• Turkish

  […] baten hastalığı, (Tıp) 5 ila 10 yaşları arasında beliren ve bulaştığı çocukta aniden görüş kaybına neden olan doğuştan gelen bir hastalık Dictionary source: Babylon English-Turkish Dictionary More: English to Turkish translation of batten's disease Batten's [translation.babylon-software.com]

  CLN7 The CLN7 gene has been assigned to the Turkish LINCL (tLINCL) variant. Individuals with the tLINCL variant were thought to originate from Turkey. [emedicine.medscape.com]

  CLN7 Patients with CLN7 is a variant of late infantile-onset NCL, known as Turkish NCL due to its initial description in Turkish families [ 26 ]. [omicsonline.org]

• Hypertension

  […] chronic adult dominant neuronal ceroid-lipofuscinosis dominant kufs disease dominant neuronal ceroid-lipofuscinosis a cerebellar syndrome with onset early in fourth decade, characterized by epileptic fits, myoclonic epilepsy, progressive dementia, and hypertension [icd10data.com]

• Sweating

  Cystic Fibrosis Web Ring Advances in Cystic Fibrosis [ Boas & McColley ] - The Child's Doctor Cystic Fibrosis Pharmacotherapy [ Lee and Anley ; '97] Links to some Cystic Fibrosis Support Groups & Other Resources - (US) Muco-Web, in French [ J-C Favre ] Sweat [facmed.unam.mx]

• Night Blindness

  Two 7-year-old girls presented with decreased visual acuity, clumsiness, night blindness, and behavioral problems. [journals.lww.com]

  Night blindness is a symptom in those with a later onset but panretinal degeneration with unrecordable ERGs eventually occurs. Pigmentary changes throughout the retina are often seen and sometimes occur in a bull’s-eye pattern. [disorders.eyes.arizona.edu]

  blindness, photophobia, and loss of peripheral and color vision) are commonly presenting symptoms of JNCL. [eyewiki.aao.org]

• Abnormal Behavior

  Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ] 0000708 Showing of 16 | Last updated: 5/1/2019 Making a diagnosis for a genetic [rarediseases.info.nih.gov]

• Fear

  Percent of people who have these symptoms is not available through HPO Abnormal cerebellum morphology Abnormality of the cerebellum Cerebellar abnormalities Cerebellar abnormality Cerebellar anomaly [ more ] 0001317 Anxiety Excessive, persistent worry and fear [rarediseases.info.nih.gov]

A diagnostic workup is initiated based on patient presentation, however, aside from tests of gene sequencing, and electron and light microscopy, several other ophthalmic imaging modalities can be useful in confirming the diagnosis with characteristic [eyewiki.aao.org]

Management and treatment Treatment is supportive only and should consist of palliative care with administration of anticonvulsive drugs; as well as educational, psychological, and psychiatric management. [orpha.net]

CLN3 is a lysosomal transmembrane protein, limiting opportunities for replacement therapies but there are additional reasons why progress towards treatment for JNCL lags behind other forms of NCL. [grantome.com]

Treatment is specific to the symptoms present in the affected individual, but often includes teams of pediatricians, neurologists, eye doctors, physical therapists, and psychiatrists. [diseaseinfosearch.org]

Naidu S, Maumanee L, Olson J, Borel J, Moser H (1988) Selenium treatment in neuronal ceroid lipofuscinosis. Am J Med Genet 5 [Suppl]:283–289 Google Scholar 5. [link.springer.com]

Treatment Treatment Options: Treatment is primarily symptomatic for sleep disorders, seizures, psychoses, malnutrition, dystonia and spasticity. [disorders.eyes.arizona.edu]

Prognosis The prognosis for JNCL is severe but life expectancy varies with some patients surviving to the fourth decade. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis There will be mental impairment, worsening seizures and progressive loss of sight and motor skills. Batten's syndrome is often fatal by the late teens or twenties. [patient.info]

[…] burden (BMB) score may be obtained from MRI images 4 may give a "salt and pepper pattern" due to scattered involvement features of superimposed osteonecrosis metaphyseal notching of humeri pathological fractures Erlenmeyer flask deformity Treatment and prognosis [radiopaedia.org]

[…] with early deaths while juvenile and adult onset forms have a relatively better prognosis. [annalsofian.org]

[…] replacement, gene therapy, neural stem cell therapy, or small-molecule pharmaceuticals. [23] Greater understanding of the pathogenesis of Batten’s Disease will likely elucidate different targets along the disease cascade to establish future treatments. [27] Prognosis [eyewiki.aao.org]

[…] reason we have chosen to study the cerebral diplegias as representing a unit in the entire group of cerebral birth palsies, hoping at least to clarify thereby the pathologic background of such conditions and possibly at the same time to indicate the etiologic [jamanetwork.com]

Etiology JNCLs are transmitted in an autosomal recessive manner and mutations in the following genes may result in JNCL with a classic and/or variant phenotype: PPT1 (designated CLN1 ; 1p32), TPP1 (11p15; designated CLN2 ), CLN3 (16p12), CLN8 (8p23; responsible [orpha.net]

Neuronal Ceroid Lipofuscinoses: Background, Etiology, Epidemiology [Internet]. [cited 2017 Jun 29]. Available from: http://emedicine.medscape.com/article/1178391-overview Aungaroon G, Hallinan B, Jain P, Horn PS, Spaeth C, Arya R. [eyewiki.aao.org]

Summary Epidemiology Worldwide prevalence is unknown. [orpha.net]

Screening, diagnosis and epidemiology of Batten disease. Expert Opinion on Orphan Drugs. 2014 Sep 1;2(9):903–10. ↑ Anderson GW, Smith VV, Brooke I, Malone M, Sebire NJ. [eyewiki.aao.org]

Epidemiology It is a rare condition with a variable incidence across different countries. [patient.info]

[…] outcome within a decade,and a characteristic fingerprint profile inclusions in different cells,including the variant form with granular osmiophilic deposits (GROD) Relevant External Links for CLN3 Genetic Association Database (GAD) CLN3 Human Genome Epidemiology [genecards.org]

We update Batten disease research, particularly as it relates to the eye, and present various theories on the pathophysiology of retinal degeneration. [ncbi.nlm.nih.gov]

In addition, this study may provide valuable insights into the function of CLN3 and the pathophysiology of JNCL. [grantome.com]

In Finnish and non-finnish europeans, the estimated frequencies are 1/558 and 1/380, whereas in Latinos and USA it is estimated to be 1/1169 and 1/506. [4] Pathophysiology Genetic The pathophysiology of JNCL has been further elucidated with genetic and [eyewiki.aao.org]

There were 14 cases where pathophysiological findings suggested LINCL but the specimens had detectable pepinase activity and there were no mutations found. [clinchem.aaccjnls.org]

Injury (FAS/FAE) Resource Site - ARBI Community Meconium Aspiration Meconium Aspiration Syndrome [ Morabito and DiCarlo ] - picuBook.net/WUSTL (US) Meconium Aspiration Syndrome (MAS) [ DA Clark ; note: 10 pages] - eMedicine Meconium Aspiration Syndrome: Pathophysiology [facmed.unam.mx]

[…] neurodegeneration; lysosomal storage Publication History Issue online: 13 October 1999 Version of record online: 13 October 1999 Manuscript Revised: 18 May 1999 Manuscript Accepted: 18 May 1999 Manuscript Received: 7 April 1999 Funded by Research to Prevent [onlinelibrary.wiley.com]

This method is applicable for preimplantation diagnosis, and thus it offers an alternative to early prenatal diagnosis in the prevention of INCL. [thieme-connect.com]

The levels of impairment defined in the table after 369.9 are based on the recommendations of the WHO Study Group on Prevention of Blindness (Geneva, November 6-10, 1972; WHO Technical Report Series 518), and of the International Council of Ophthalmology [genedx.com]

[…] high-technology SMEs, and will (iii) collaborate with Indian experts on the following objectives: (1) High-technology SMEs will develop innovative cost- and time-effective testing and screening methods for all NCLs in order to ensure early diagnosis and thereby prevention [cordis.europa.eu]

Wellman ] - Loyola University (US) Nutrition's Role in Preventing Birth Defects [reprint, Jan/Feb '94] - Food Insight (US) On Why Folic Acid is so Important - CDC (US) Folate - A Guide for Professionals - Victoria (AU) Prevention of Neural Tube Defects [facmed.unam.mx]