This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.com]

The median age at presentation was 3 years (range: 1-7 years). Consanguinity was present in seven children and family history of similar illness was present in five patients (45.5%). [neurologyindia.com]

CLN2 disease most commonly presents with seizures and/or ataxia in the late-infantile period (ages 2–4), often in combination with a history of language delay, followed by progressive childhood dementia, motor and visual deterioration, and early death [moh-it.pure.elsevier.com]

Clinical description The clinical presentation varies widely between forms but the clinical hallmark is a combination of dementia, visual loss, and epilepsy. [orpha.net]

Results: The present patient was a 4-year-old girl who presented at 2 years and 10 months old with seizures followed by ataxia, regression of skills, and eventual visual decline. TPP1 enzyme activity was below normal for age. [atm.amegroups.com]

• Epilepsy

  […] in metabolic epilepsies. [books.google.com]

  […] lipofuscinosis AD/AR 36 175 KCNC1 Epilepsy, progressive myoclonic AD 5 2 KCTD7 * Epilepsy, progressive myoclonic AR 13 17 MFSD8 Ceroid lipofuscinosis, neuronal AR 25 46 NEU1 Sialidosis AR 22 60 NHLRC1 Epilepsy, progressive myoclonic AR 15 70 POLG POLG-related [blueprintgenetics.com]

  SLC19A3, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, STX1B, SYNGAP1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2 Clinical Utility: Molecular confirmation of a clinical diagnosis To assist with decisions about treatment and management of individuals with epilepsy [genedx.com]

  Epilepsy and dementia without visual loss in these patients may be indicative of a form of JNCL known as the Northern epilepsy variant (progressive epilepsy-intellectual deficit, Finnish type; see this term). [orpha.net]

• Mental Deterioration

  Signs and symptoms include progressive vision loss, progressive motor skills deterioration, mental impairment, and seizures. Infantile neuronal ceroid lipofuscinosis in which the signs and symptoms appear later in life. [icd10data.com]

  Here the authors report a case of a 9-year-old boy who presented with progressive mental and social deterioration since the age of 2½ years. [annalsofian.org]

  Hirvasniemi A, Lang H, Lehesjoki AE, Leisti J (1994) Northern epilepsy syndrome: An inherited childhood onset epilepsy with associated mental deterioration. J Med Genet 31: 177-182. [omicsonline.org]

• Aphasia

  163927 LPP* 100012 Lissencephaly with cerebellar hypoplasia type B 250831 Logopenic progressive aphasia 525 LPP* 100013 Lissencephaly with cerebellar hypoplasia type C 250831 Logopenic variant PPA 37553 LQT7 2404 Loiasis 65283 LQT8 100014 Lissencephaly [doczz.net]

PPP2R5D, PPT1, PURA, SCN1A, SCN1B, SCN2A, SLC19A3, SLC2A1, SLC6A1, SLC6A8, SLC9A6, SMC1A, SPATA5, STX1B, SYNGAP1, TBC1D24, TCF4, TPP1, UBE3A, WDR45, ZEB2 Clinical Utility: Molecular confirmation of a clinical diagnosis To assist with decisions about treatment [genedx.com]

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. [rarediseases.info.nih.gov]

Management and treatment There is no curative treatment for NCLs and management is supportive only. [orpha.net]

Treatment protocols and experimental therapies are fully described, with guidance on follow-up and monitoring. [link.springer.com]

Written by an international collection of authorities in the field, it provides invaluable advice on their diagnosis, patient care, and new treatments that are available. [books.google.com]

Prognosis Although all NCLs lead to severe disability, the prognosis is variable with life expectancy ranging from a few hours or days after birth for the congenital form to survival into the fifth decade for patients with the adult-onset form. [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]

Unfortunately, the long-term outlook ( prognosis ) for people with adult neuronal ceroid lipofuscinosis is generally poor. The symptoms tend to become worse over time, resulting in a shortened life expectancy. [rarediseases.info.nih.gov]

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

Etiology To date, at least 10 genetic NCL disorders have been reported and are designated as CLN1 to CLN10. [orpha.net]

To date no specific enzymatic deficiency as the etiology of the condition is known. [healio.com]

[…] of the corpus uteri 141 Spongy degeneration of the brain 324737 SRD5A3-CDG syndrome 54260 Spongy myocardium 83601 SREAT 29822 Spontaneous periodic hypothermia 2806 SSPE 99722 Sporadic achalasia 50944 SSPS 247234 Sporadic adult-onset ataxia of unknown etiology [doczz.net]

Summary Epidemiology The exact prevalence and incidence of this group of disorders are unknown. [orpha.net]

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

Relevant External Links for CLN6 Genetic Association Database (GAD) CLN6 Human Genome Epidemiology (HuGE) Navigator CLN6 Atlas of Genetics and Cytogenetics in Oncology and Haematology: CLN6 No data available for Genatlas for CLN6 Gene Mutations in CLN7 [genecards.org]

Trends in epidemiology and management of breast cancer in developing Arab countries: a literature and registry analysis. Int J Surg (2007) 5 :225–33. doi:10.1016/j.ijsu.2006.06.015 PubMed Abstract | CrossRef Full Text | Google Scholar 7. [frontiersin.org]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Neuronal ceroid lipofuscinoses (NCLs) are a subset of lysosomal storage diseases that involve defective cellular processing of [mayomedicallaboratories.com]

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

Supported in part by an unrestricted grant from Research to Prevent Blindness, Inc., New York, NY, and the Children’s Miracle Network. The authors have no proprietary interest in any aspect of this article. Reprint requests: Dean P. [journals.lww.com]

Physiotherapy helps affected children retain the ability to remain upright for as long as possible, and prevents some of the pain. Recent attempts to treat INCL with cystagon have been unsuccessful. [en.wikipedia.org]

Through defects in endocytosis, autophagy, lysosomal and mitochondrial function, and cytoskeleton, the JNCL gene defect may prevent cells from growing to wild-type size. [publikationen.ub.uni-frankfurt.de]

Typical clinical, ophthalmoscopic, EEG, and neuroimaging features can be suggestive of this rare disease preventing misdiagnosis, thus helping in genetic counseling. Axillary skin biopsy is of immense utility for diagnostic confirmation. 1. Zhong N. [annalsofian.org]