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Neuronal Ceroid Lipofuscinosis 1

INCL


Presentation

  • 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]
  • Clinical description The clinical presentation varies widely between forms but the clinical hallmark is a combination of dementia, visual loss, and epilepsy.[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]
  • Clinical presentation is heterogeneous as is onset, which renders the diagnosis hard to make.[radiopaedia.org]
  • The neuronal ceroid-lipofuscinoses: from past to present. Biochimica et Biophysica Acta . 2006;1762:850-856. 3. Schulz A, Kohlschütter A, Mink J, Simonati A, Williams R. NCL diseases – clinical perspectives.[cln2connection.com]
Inflammation
  • One subject died 49 days postsurgery after developing status epilepticus on day 14, but with no evidence of CNS inflammation. Four of the 10 subjects developed a mild, mostly transient, humoral response to the vector.[liebertpub.com]
Progressive Loss of Vision
  • loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss, progressive Visual loss, progressive [ more ] 0000529 Retinal degeneration Retina degeneration 0000546 Seizures Seizure 0001250 Undetectable[rarediseases.info.nih.gov]
Seizure
  • Seizure 0001250 Undetectable electroretinogram 0000550 Showing of 14 Last updated: 7/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov]
  • Furthermore the quality of life is impaired by massive epileptical seizures. Since the children's immune system is in a very bad condition, they finally die because of a simple infection. The average life expectancy is twenty-five years.[ncl-naechstenliebe.de]
  • Differential diagnosis The differential diagnoses should include other causes of vision loss, dementia and seizures with an appropriate age of onset (typically mitochondrial disorders, inborn errors of metabolism and other lysosomal storage disorders)[orpha.net]
  • PME is a condition characterized by both muscle contractions (myoclonus) and seizures (epilepsy). Some individuals experience difficulties in coordinating voluntary movements (ataxia) or difficulty speaking (dysarthria).[rarediseases.org]
  • Only 1 of the patients had seizures, and both were able to hold full-time employment as adults. Wisniewski et al reported similar patients who initially presented with psychiatric or behavioral symptoms but otherwise had a typical course.[emedicine.medscape.com]
Gait Ataxia
  • As the disease progressed, he developed progressive vision loss, gait ataxia, action myoclonus, and epilepsy. Electroencephalogram revealed generalized sharp and slow wave discharges with background slowing.[annalsofian.org]

Workup

  • Clinical Testing and Workup Enzymes assays are tests that measure the activity of specific enzymes. In some types of ANCL, reduced enzyme activity can be demonstrated on an assay.[rarediseases.org]

Treatment

  • Management and treatment There is no curative treatment for NCLs and management is supportive only.[orpha.net]
  • FDA-Approved Treatments The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.[rarediseases.info.nih.gov]
  • Standard Therapies Treatment The treatment of adult neuronal ceroid lipofuscinosis is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists.[rarediseases.org]
  • 雑誌 Brain Dev 31:499-502 (2009) DOI: 10.1016/j.braindev.2008.12.008 文献 PMID: 18668166 (treatment/ drug) 著者 Pierret C, Morrison JA, Kirk MD タイトル Treatment of lysosomal storage disorders: focus on the neuronal ceroid-lipofuscinoses.[genome.jp]
  • Treatment of myoclonic seizures. Expert Rev Neurother [Internet]. 2012;12(12):1411-18. [ Links ] Available from: 20. Syvertsen MR, Markhus R, Selmer KK, Nakken KO. Juvenile myoclonic epilepsy.[revistaspp.org]

Prognosis

  • 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]

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

Epidemiology

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

Pathophysiology

  • 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

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

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