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]

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

• Epilepsy

  All five JB disease patients presented with epilepsy and neuro psycho-motor involution (NPMI). Among the five patients with INCL, all had epilepsy and four presented with NPMI. [scielo.br]

  Signs and symptoms vary widely between the forms but generally include a combination of dementia, vision loss, and epilepsy. All types of NCL also belong to a larger group of diseases known as lysosomal storage disorders. [rarediseases.info.nih.gov]

  Progressive myoclonic epilepsy. Cerebellum. 2004;3:156–71. [PubMed: 15543806] [ncbi.nlm.nih.gov]

• Falling

  — Morphologische und biochemische Untersuchungen über einen Fall von juveniler amaurotischer Idiotie (Neuronale Ceroid-Lipofuszinosis). Verh. Deutsch. Ges. Path. 55:427, 1971. [ Links ] 6. [scielo.br]

• Abnormal Behavior

  Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ] 0000708 Showing of 16 | Last updated: 3/1/2019 Making a diagnosis for a genetic [rarediseases.info.nih.gov]

• Seizure

  Seizure 0001250 Visual loss Loss of vision Vision loss [ more ] 0000572 30%-79% of people have these symptoms Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Abnormality of movement Movement disorder [rarediseases.info.nih.gov]

• Ataxia

  Neurology 54;1676-1680 2000 Acta Neuropathol(Berl) 97;275-278 1999 Research Grants & Projects Periventricular leukomalacia: neuroimaging, neuropathology, and clinical features Neuronal ceroid lipofuscinosis: molecular diagnosis and pathogenesis Ataxia [researchmap.jp]

  Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. [scielo.br]

  […] regression Loss of developmental milestones Mental deterioration in childhood [ more ] 0002376 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Optic atrophy 0000648 5%-29% of people have these symptoms Ataxia [rarediseases.info.nih.gov]

• Mental Deterioration

  Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Mental deterioration Cognitive decline Cognitive decline, progressive Intellectual deterioration Progressive cognitive decline [ more ] 0001268 Muscular hypotonia Low or weak muscle [rarediseases.info.nih.gov]

• Speech Disorder

  Unusual movement [ more ] 0100022 Developmental regression Loss of developmental milestones Mental deterioration in childhood [ more ] 0002376 Neurological speech impairment Speech disorder Speech impairment Speech impediment [ more ] 0002167 Optic atrophy [rarediseases.info.nih.gov]

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]

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]

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 incidence3,9,15. [scielo.br]

Worldwide epidemiological data do not exist, but a higher incidence of NCL has been observed in northern countries 5. [scielo.br]

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]

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]

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