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Neuronal Ceroid Lipofuscinosis 8

Batten Disease


Presentation

  • Other forms of NCL may present with behavior changes, epilepsy, visual impairment, or slowing of developmental progress and then loss of skills. The course may be extremely variable. Some genotype-phenotype information is available.[ncbi.nlm.nih.gov]
  • Augustine A Fricchione G Woznicki R et al : Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report.[thejns.org]
  • Visual problems are not a prominent feature of this disorder; if present they may be mild and go unrecognized.[orpha.net]
  • Diagnostic methods The diagnostic strategy for patients presenting with LINCL should include enzymatic testing for deficiencies in palmitoyl-protein thioesterase 1, tripeptidyl-peptidase 1 and cathepsin D, present in patients with PPT1, TPP1 and CTSD[orpha.net]
  • Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities.[scielo.br]
Turkish
  • There are two forms of this mutated gene: 1-CLN8 and 2-CLN8. 1-CLN8 is known as Northern epilepsy syndrome, while 2-CLN8 is primarily from Turkish descent. Epilepsy Neuronal ceroid lipofuscinosis CLN8[en.wikipedia.org]
  • […] infantile (Jansky-Bielchowsky disease) CLN3 NCL 3/Neuronal ceroid lipofuscinosis, juvenile (Batten-Spielmeyer-Vogt disease) CLN6 NCL 6/Neuronal ceroid lipofuscinosis, late infantile (Kufs type) CLN8 NCL 8/ laat infantiele Neuronale Ceroid Lipofuscinose (Turkish[lumc.nl]
  • Mole and Anna‐Elina Lehesjoki, Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy, Human Mutation, 23, 4, (300-305), (2004). Hannah M. Mitchison, Ming J. Lim and Jonathan D.[doi.org]
Progressive Dementia
  • Donnet A Habib M Pellissier JF et al : Kufs' disease presenting as progressive dementia with late-onset generalized seizures: a clinicopathological and electrophysiological study.[thejns.org]
Italian
  • Santorelli, Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: another genetic hit in the Mediterranean, Neurogenetics, 7, 2, (111), (2006).[doi.org]
Muscle Rigidity
  • The seizures commonly involve muscle rigidity, convulsions and loss of consciousness. Generally, the recurrence is one to two times per month. In the years following the onset of seizures, a noticeable decrease in intellectual capacity is observed.[en.wikipedia.org]
  • The seizures in this form may be resistant to treatment and are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness.[ghr.nlm.nih.gov]
Progressive Visual Loss
  • Rapidly progressing visual loss resulting in severe visual impairment within one to two years is often the first clinical sign. Epilepsy with generalized tonic-clonic seizures and/or complex-partial seizures typically appears around age ten years.[ncbi.nlm.nih.gov]
Short Arm
  • Northern epilepsy syndrome is caused by an inherited autosomal recessive mutation in the telomeric region of the short arm of chromosome 8.[en.wikipedia.org]
Psychiatric Symptoms
  • Augustine A Fricchione G Woznicki R et al : Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report.[thejns.org]
Tonic-Clonic Seizure
  • Epilepsy with generalized tonic-clonic seizures and/or complex-partial seizures typically appears around age ten years. Life expectancy ranges from the late teens to the 30s.[ncbi.nlm.nih.gov]
  • Clinical description The disorder is characterized by generalized tonic-clonic seizures with onset at 5 to 10 years of age and subsequent slowly progressive mental deterioration.[orpha.net]
  • Abstract Northern epilepsy, or progressive epilepsy with mental retardation (EPMR), is an autosomal recessive disorder characterized by normal early development, onset of generalized tonic-clonic seizures between the ages of 5 and 10 years, and subsequent[doi.org]
  • Abstract Northern epilepsy is an autosomal recessive childhood onset epilepsy syndrome, clinically characterized by generalized tonicclonic seizures with onset at 5 to 10 years of age and subsequent slowly progressive mental deterioration.[doi.org]
Mental Deterioration
  • Clinical description The disorder is characterized by generalized tonic-clonic seizures with onset at 5 to 10 years of age and subsequent slowly progressive mental deterioration.[orpha.net]
  • Abstract Northern epilepsy is an autosomal recessive childhood onset epilepsy syndrome, clinically characterized by generalized tonic‐clonic seizures with onset at 5 to 10 years of age and subsequent slowly progressive mental deterioration.[doi.org]
Generalized Seizure
  • Donnet A Habib M Pellissier JF et al : Kufs' disease presenting as progressive dementia with late-onset generalized seizures: a clinicopathological and electrophysiological study.[thejns.org]
Chorea
  • Clayton WL Schiffmann JS : Ceroid lipofuscinosis; a cause of chorea in the adult. Neurology 36 (Suppl 1) : 275 1986 (Abstract) Clayton WL Schiffmann JS: Ceroid lipofuscinosis; a cause of chorea in the adult.[thejns.org]

Treatment

  • Genetic counseling Progressive epilepsy-intellectual deficit, Finnish type is transmitted in an autosomal recessive manner Management and treatment Treatment is supportive only with palliative care including administration of anticonvulsants, as well[orpha.net]
  • Management and treatment There is no curative treatment.[orpha.net]
  • Current available treatment is limited to treating the symptoms, not the cause. Seizure frequency can be regulated by the use of drugs such as Clonazepam (or other benzodiazepines) and sodium valproate.[en.wikipedia.org]
  • The seizures in this form may be resistant to treatment and are often the generalized tonic-clonic type, which involve muscle rigidity, convulsions, and loss of consciousness.[ghr.nlm.nih.gov]
  • Currently the government is testing several treatments including N-butyldeoxynojirimycin in mice, as well as stem cell treatment in humans and other medical treatments recruiting test patients. [20] See also GM2-gangliosidosis, AB variant globoside Additional[ipfs.io]

Prognosis

  • Prognosis Although patients suffer from slow cognitive decline, life expectancy is less severely reduced than in other forms of NCL with juvenile onset and patients may reach 50 or 60 years of age.[orpha.net]
  • Prognosis The prognosis is poor with most children becoming severely disabled by mid-childhood. Most patients do not survive to reach adulthood. The documents contained in this web site are presented for information purposes only.[orpha.net]

Etiology

  • Although there were no unexpected serious adverse events that were unequivocally attributable to the AAV2 CU hCLN2 vector, there were serious adverse effects, the etiology of which could not be determined under the conditions of the experiment.[liebertpub.com]
  • Etiology Progressive epilepsy-intellectual deficit, Finnish type is caused by mutations in the CLN8 gene (8p23.3) encoding a putative transmembrane protein of unknown function.[orpha.net]
  • Etiology LINCLs are transmitted in an autosomal recessive manner and mutations in the following genes may result in LINCL with a classic and/or variant phenotype: PPT1 (designated CLN1 ; 1p32), TPP1 (11p15; designated CLN2 and responsible for the majority[orpha.net]
  • In fact, the juvenile form of NCL is the most prevalent one throughout the world; except for Finland, where the CLN1 (the etiologic locus of INCL) has a comparative higher incidence 3,9,15 .[scielo.br]

Epidemiology

  • Summary Epidemiology Prevalence is unknown but the disorder is principally reported in Northern Finland.[orpha.net]
  • Summary Epidemiology LINCLs have been reported in populations with diverse ethnic origins with the highest prevalence being reported in Finland (around 1/385,000), estimates of below 1/1,000,000 in other Scandinavian counties and an annual incidence at[orpha.net]
  • Worldwide epidemiological data do not exist, but a higher incidence of NCL has been observed in northern countries 5 .[scielo.br]
Sex distribution
Age distribution

Pathophysiology

  • The adult form of the disease, however, is sometimes milder, and may only lead to muscle weakness that impairs walking or the ability to get out of bed. [18] Pathophysiology Sandhoff disease has an autosomal recessive pattern of inheritance.[ipfs.io]
  • The adult form of the disease, however, is sometimes milder, and may only lead to muscle weakness that impairs walking or the ability to get out of bed. [ 17 ] Pathophysiology Sandhoff disease has an autosomal recessive pattern of inheritance.[dictionnaire.sensagent.leparisien.fr]
  • Pathophysiologically, NCLs have been attributed to lysosomal lipofuscin ceroid deposits 1 and are caused by enzymatic dysfunction 2 , 3 consequent to autosomal recessive genetic mutations. To date, 14 genes have been linked to NCL.[scielo.br]

Prevention

  • Sodium valproate prevents the depolarization of the cell by blocking sodium ion channels and inhibitory GABA enzymes. Both of these anticonvulsants lead to depression of the central nervous system.[en.wikipedia.org]
  • Raloxifene is a prescription drug used by women to prevent and treat bone loss ( osteoporosis) after menopause. Stone, Mauricio Castillo, Brian Neelon and Suresh K.[elyzeyiko.gq]
  • […] 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]
  • Mutations in the HEXB gene disrupt the activity of these enzymes, preventing the breakdown of GM2 ganglioside and other molecules.[ipfs.io]

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