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]

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

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]

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]

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

• Epilepsy

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

  Various clinical and genetic phenotypes of adult NCL may be recognized, one featuring a progressive myoclonus epilepsy. [karger.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]

• Congestive Heart Failure

  heart failure X-linked isolated neurosensory hearing loss type DFN 90625 137831 X-linked intellectual deficit - cerebellar hypoplasia X-linked isolated sensorineural deafness type DFN 90625 X-linked isolated sensorineural hearing loss type DFN 792 X-linked [doczz.net]

• Thrombosis

  Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke in Infants and Children E-1941 110 Sinovenous Thrombosis [books.google.com]

  US20070225316A1 ( en ) 2007-09-27 Methods and compositions for treating schizophrenia WO2003064393A1 ( fr ) 2003-08-07 Derive de thio-carbostyryle, ses n-oxydes et les n-oxydes d'aripiprazole US20140296255A1 ( en ) 2014-10-02 Lysine demethylase inhibitors for thrombosis [google.com.na]

  Charcot-Marie-Tooth disease type 4H 221126 Cerebral proliferative glomeruloid vasculopathy 137923 Cervicofacial lymphatic malformation 139515 Charcot-Marie-Tooth disease type 4J 3456 90120 Charcot-Marie-Tooth disease type 6 329217 Cerebral sinovenous thrombosis [doczz.net]

• Stroke

  The National Institute of Neurological Disorders and Stroke (NINDS) (NINDS) collects and disseminates research information related to neurological disorders. Click on the link to view information on this topic. [rarediseases.info.nih.gov]

  Older Children E-1849 105 Disorders of Intracranial Pressure E-1868 106 Spinal Cord Injury E-1882 107 Determination of Brain Death in Infants and Children E-1910 108 Development and Function of the Cerebrovascular System E-1931 109 Arterial Ischemic Stroke [books.google.com]

  […] angiopathy 91378 Hereditary bradykinine-induced angioedema 313808 Hereditary diffuse leukoencephalopathy with spheroids Hereditary breast and ovarian cancer syndrome 288 Hereditary elliptocytosis 63261 Hereditary endotheliopathy - retinopathy - nephropathy - stroke [doczz.net]

• Mental Deterioration

  The early symptoms are followed by epilepsy and progressive physical and mental deterioration. Batten disease gene maps to chromosome 16p12.1. 56 chromosome haplotype defined by alleles at the d16s299 is shared by 73% of batten disease chromosomes. [icd10data.com]

  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]

• Neurologic Manifestation

  Manifestations of Rheumatic Disorders of Childhood E-2172 123 Medulloblastoma E-2211 124 Other Embryonal and Pineal Malignancies of the Central Nervous System E-2221 125 Ependymoma E-2225 126 Pediatric Brain Tumors HighGrade Glioma E-2236 127 Pediatric [books.google.com]

  14q32.2 261304 Paternal monosomy 20q13.2q13.3 261304 Paternal monosomy 20q13.2-q13.3 251004 Paternal uniparental disomy of chromosome 1 166063 PCH4 166068 PCH5 166073 PCH6 97352 Pellagra 71528 PCI deficiency 2837 2924 PCLD Pellagra-like skin rash - neurological [doczz.net]

• Peripheral Neuropathy

  Neuropathies E-2400 142 Acquired Peripheral Neuropathies E-2419 143 Inflammatory Neuropathies E-2436 144 Congenital Myasthenic Syndromes E-2451 145 Acquired Disorders of the Neuromuscular Junction E-2462 146 Duchenne and Becker Muscular Dystrophies E [books.google.com]

  neuropathy, Fiskerstrand type 3224 Pfeiffer-Kapferer syndrome 48652 Phelan-McDermid syndrome 178040 Peripheral precocious puberty 2921 Pfeiffer-Mayer syndrome 1919 Phenobarbital antenatal infection Peripheral dysostosis 90120 Peripheral neuropathy and [doczz.net]

• 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]

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]

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]

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]

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

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]

HER2 expression in breast cancer is associated with poor prognosis ( 26 ). [frontiersin.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]

Postoperatively, non-invasive techniques of respiratory support such as bilevel positive airway pressure support (BiPAP) may facilitate postoperative tracheal extubation and prevent atelectasis in patients with altered respiratory function. [26], [27] [saudija.org]