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Infantile neuronal ceroid lipofuscinosis(INCL)

MedGen UID:
75666
Concept ID:
C0268281
Disease or Syndrome
Synonyms: INCL; SANTAVUORI DISEASE; SANTAVUORI-HALTIA DISEASE
SNOMED CT: Hagberg-Santavouri type neuronal ceroid lipofuscinosis (58258004); Polyunsaturated fatty acid lipidosis (58258004); Haltia-Santavouri type neuronal ceroid lipofuscinosis (58258004); Infantile neuronal ceroid lipofuscinosis (58258004); Hagberg-Santavuori disease (58258004); Polyunsaturated acid lipidosis (58258004)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
Monarch Initiative: MONDO:0019261
OMIM®: 256730
Orphanet: ORPHA79263

Definition

CLN1 disease is an inherited disorder that primarily affects the nervous system. Individuals with this condition have normal development in infancy, but typically by 18 months they become increasingly irritable and begin to lose previously acquired skills (developmental regression). In affected children, nerve cells in the brain die over time, leading to an overall loss of brain tissue (brain atrophy) and an unusually small head (microcephaly). Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk. Some affected children develop repetitive hand movements. By age 2, individuals with this condition often have muscle twitches (myoclonus), recurrent seizures (epilepsy), and vision loss. Some affected children develop frequent respiratory infections. As the condition worsens, children have severe feeding difficulties that often require a feeding tube. Children with CLN1 disease usually do not survive past childhood.Some people with CLN1 disease do not develop symptoms until later in childhood or in adulthood. As with younger affected children, older individuals develop a decline in intellectual function, myoclonus, epilepsy, and vision loss. In these individuals, life expectancy depends on when signs and symptoms of CLN1 disease develop and their severity; affected individuals may survive only into adolescence or through adulthood. Adults with CLN1 disease may also have movement disorders, including impaired muscle coordination (ataxia) or a pattern of movement abnormalities known as parkinsonism.CLN1 disease is one of a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which may also be collectively referred to as Batten disease. All these disorders affect the nervous system and typically cause worsening problems with vision, movement, and thinking ability. The different NCLs are distinguished by their genetic cause. Each disease type is given the designation "CLN," meaning ceroid lipofuscinosis, neuronal, and then a number to indicate its subtype.
[from GHR]

Recent clinical studies

Etiology

Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH
Seizure 2019 Jul;69:180-185. Epub 2018 Sep 2 doi: 10.1016/j.seizure.2018.08.027. PMID: 31059981
Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A
Lancet Child Adolesc Health 2018 Aug;2(8):582-590. Epub 2018 Jul 2 doi: 10.1016/S2352-4642(18)30179-2. PMID: 30119717Free PMC Article
Baker EH, Levin SW, Zhang Z, Mukherjee AB
AJNR Am J Neuroradiol 2017 Feb;38(2):376-382. Epub 2016 Oct 20 doi: 10.3174/ajnr.A4978. PMID: 27765741Free PMC Article
Lu JY, Nelvagal HR, Wang L, Birnbaum SG, Cooper JD, Hofmann SL
Mol Genet Metab 2015 Sep-Oct;116(1-2):98-105. Epub 2015 May 12 doi: 10.1016/j.ymgme.2015.05.005. PMID: 25982063
Levin SW, Baker EH, Zein WM, Zhang Z, Quezado ZM, Miao N, Gropman A, Griffin KJ, Bianconi S, Chandra G, Khan OI, Caruso RC, Liu A, Mukherjee AB
Lancet Neurol 2014 Aug;13(8):777-87. Epub 2014 Jul 2 doi: 10.1016/S1474-4422(14)70142-5. PMID: 24997880Free PMC Article

Diagnosis

Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH
Seizure 2019 Jul;69:180-185. Epub 2018 Sep 2 doi: 10.1016/j.seizure.2018.08.027. PMID: 31059981
Chin JJ, Behnam B, Davids M, Sharma P, Zein WM, Wang C, Chepa-Lotrea X, Gallantine WB, Toro C, Adams DR, Tifft CJ, Gahl WA, Malicdan MCV
Mol Genet Metab 2019 Feb;126(2):188-195. Epub 2018 Dec 3 doi: 10.1016/j.ymgme.2018.12.001. PMID: 30528883
Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A
Lancet Child Adolesc Health 2018 Aug;2(8):582-590. Epub 2018 Jul 2 doi: 10.1016/S2352-4642(18)30179-2. PMID: 30119717Free PMC Article
Niida Y, Yokoi A, Kuroda M, Mitani Y, Nakagawa H, Ozaki M
Brain Dev 2016 Aug;38(7):674-7. Epub 2016 Feb 1 doi: 10.1016/j.braindev.2016.01.004. PMID: 26846731
Levin SW, Baker EH, Zein WM, Zhang Z, Quezado ZM, Miao N, Gropman A, Griffin KJ, Bianconi S, Chandra G, Khan OI, Caruso RC, Liu A, Mukherjee AB
Lancet Neurol 2014 Aug;13(8):777-87. Epub 2014 Jul 2 doi: 10.1016/S1474-4422(14)70142-5. PMID: 24997880Free PMC Article

Therapy

Kim K, Kleinman HK, Lee HJ, Pahan K
Orphanet J Rare Dis 2017 Jun 17;12(1):113. doi: 10.1186/s13023-017-0663-8. PMID: 28623936Free PMC Article
Baker EH, Levin SW, Zhang Z, Mukherjee AB
AJNR Am J Neuroradiol 2017 Feb;38(2):376-382. Epub 2016 Oct 20 doi: 10.3174/ajnr.A4978. PMID: 27765741Free PMC Article
Lu JY, Nelvagal HR, Wang L, Birnbaum SG, Cooper JD, Hofmann SL
Mol Genet Metab 2015 Sep-Oct;116(1-2):98-105. Epub 2015 May 12 doi: 10.1016/j.ymgme.2015.05.005. PMID: 25982063
Miller JN, Kovács AD, Pearce DA
Hum Mol Genet 2015 Jan 1;24(1):185-96. Epub 2014 Sep 8 doi: 10.1093/hmg/ddu428. PMID: 25205113Free PMC Article
Levin SW, Baker EH, Zein WM, Zhang Z, Quezado ZM, Miao N, Gropman A, Griffin KJ, Bianconi S, Chandra G, Khan OI, Caruso RC, Liu A, Mukherjee AB
Lancet Neurol 2014 Aug;13(8):777-87. Epub 2014 Jul 2 doi: 10.1016/S1474-4422(14)70142-5. PMID: 24997880Free PMC Article

Prognosis

Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A
Lancet Child Adolesc Health 2018 Aug;2(8):582-590. Epub 2018 Jul 2 doi: 10.1016/S2352-4642(18)30179-2. PMID: 30119717Free PMC Article
Baker EH, Levin SW, Zhang Z, Mukherjee AB
AJNR Am J Neuroradiol 2017 Feb;38(2):376-382. Epub 2016 Oct 20 doi: 10.3174/ajnr.A4978. PMID: 27765741Free PMC Article
Levin SW, Baker EH, Zein WM, Zhang Z, Quezado ZM, Miao N, Gropman A, Griffin KJ, Bianconi S, Chandra G, Khan OI, Caruso RC, Liu A, Mukherjee AB
Lancet Neurol 2014 Aug;13(8):777-87. Epub 2014 Jul 2 doi: 10.1016/S1474-4422(14)70142-5. PMID: 24997880Free PMC Article
Bouhouche A, Regragui W, El Fahime E, Bouslam N, Tazi-Ahnini R, Melloul M, Benomar A, Yahyaoui M
Indian J Pediatr 2013 Aug;80(8):694-6. Epub 2012 Nov 22 doi: 10.1007/s12098-012-0889-3. PMID: 23180398
Fukumura S, Saito Y, Saito T, Komaki H, Nakagawa E, Sugai K, Sasaki M, Oka A, Takamisawa I
Dev Med Child Neurol 2012 Jul;54(7):663-6. Epub 2011 Dec 23 doi: 10.1111/j.1469-8749.2011.04170.x. PMID: 22221116

Clinical prediction guides

Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH
Seizure 2019 Jul;69:180-185. Epub 2018 Sep 2 doi: 10.1016/j.seizure.2018.08.027. PMID: 31059981
Sindelar M, Dyke JP, Deeb RS, Sondhi D, Kaminsky SM, Kosofsky BE, Ballon DJ, Crystal RG, Gross SS
Sci Rep 2018 Oct 15;8(1):15229. doi: 10.1038/s41598-018-33449-0. PMID: 30323181Free PMC Article
Nickel M, Simonati A, Jacoby D, Lezius S, Kilian D, Van de Graaf B, Pagovich OE, Kosofsky B, Yohay K, Downs M, Slasor P, Ajayi T, Crystal RG, Kohlschütter A, Sondhi D, Schulz A
Lancet Child Adolesc Health 2018 Aug;2(8):582-590. Epub 2018 Jul 2 doi: 10.1016/S2352-4642(18)30179-2. PMID: 30119717Free PMC Article
Dyke JP, Sondhi D, Voss HU, Yohay K, Hollmann C, Mancenido D, Kaminsky SM, Heier LA, Rudser KD, Kosofsky B, Casey BJ, Crystal RG, Ballon D
AJNR Am J Neuroradiol 2016 Jun;37(6):1160-9. Epub 2016 Jan 28 doi: 10.3174/ajnr.A4669. PMID: 26822727Free PMC Article
Lu JY, Hu J, Hofmann SL
Mol Genet Metab 2010 Apr;99(4):374-8. Epub 2009 Dec 5 doi: 10.1016/j.ymgme.2009.12.002. PMID: 20036592Free PMC Article

Recent systematic reviews

Chen ZR, Liu DT, Meng H, Liu L, Bian WJ, Liu XR, Zhu WW, He Y, Wang J, Tang B, Su T, Yi YH
Seizure 2019 Jul;69:180-185. Epub 2018 Sep 2 doi: 10.1016/j.seizure.2018.08.027. PMID: 31059981

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