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Adult neuronal ceroid lipofuscinosis

MedGen UID:: 7230
•Concept ID:: C0022797
•: Disease or Syndrome

Synonyms:	Kufs disease; Kufs disease, autosomal recessive
SNOMED CT:	Adult neuronal ceroid lipofuscinosis (62009002); Kufs' disease (62009002); Adult-type amaurotic idiocy (62009002); Late familial amaurotic idiocy (62009002); Amaurotic idiocy late familial (62009002); Kufs type neuronal ceroid lipofuscinosis (62009002); Amaurotic idiocy adult type (62009002)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: 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 dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	DNAJC5, CLN6, CTSF, PPT1, GRN, CTSD

Monarch Initiative:	MONDO:0019260
Orphanet:	ORPHA79262

Definition

A genetically heterogeneous group of neuronal ceroid lipofuscinoses (NCLs) with onset during the third decade of life, characterized by dementia, seizures and loss of motor capacities, and sometimes associated with visual loss caused by retinal degeneration. [from ORDO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Cerebral lipidosis with dementia
- Adult neuronal ceroid lipofuscinosis

Professional guidelines

PubMed

Diagnostic (clinical and morphological) criteria for adult neuronal ceroid-lipofuscinosis (Kufs' disease), Hôpital de la Salpétrière 'AFM Institut de Myologie', Paris, France, 5 December 1996.

Ruchoux MM, Goebel HH
Neuropathol Appl Neurobiol 1997 Jun;23(3):262-3. doi: 10.1111/j.1365-2990.1997.tb01210.x. PMID: 9223136

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Recent clinical studies

Etiology

Novel in-frame deletion in MFSD8 gene revealed by trio whole exome sequencing in an Iranian affected with neuronal ceroid lipofuscinosis type 7: a case report.

Hosseini Bereshneh A, Garshasbi M
J Med Case Rep 2018 Sep 25;12(1):281. doi: 10.1186/s13256-018-1788-7. PMID: 30249282 Free PMC Article

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Berkovic SF, Staropoli JF, Carpenter S, Oliver KL, Kmoch S, Anderson GW, Damiano JA, Hildebrand MS, Sims KB, Cotman SL, Bahlo M, Smith KR, Cadieux-Dion M, Cossette P, Jedličková I, Přistoupilová A, Mole SE; ANCL Gene Discovery Consortium
Neurology 2016 Aug 9;87(6):579-84. Epub 2016 Jul 13 doi: 10.1212/WNL.0000000000002943. PMID: 27412140 Free PMC Article

A rare dementing disease: adult neuronal ceroid lipofuscinoses.

Babacan-Yildiz G, Hanagasi H, Gurvit H, Sirin G, Solakoglu S, Kucuk OS
J Neuropsychiatry Clin Neurosci 2012 Fall;24(4):493-8. doi: 10.1176/appi.neuropsych.11080182. PMID: 23224458

Adult neuronal ceroid-lipofuscinosis--personal observations.

Martin JJ, Ceuterick C
Acta Neurol Belg 1997 Jun;97(2):85-92. PMID: 9246375

The neuronal ceroid-lipofuscinoses.

Goebel HH
J Child Neurol 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602. PMID: 8576551

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Diagnosis

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).

Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.

Nijssen PC, Brusse E, Leyten AC, Martin JJ, Teepen JL, Roos RA
Mov Disord 2002 May;17(3):482-7. doi: 10.1002/mds.10104. PMID: 12112194

The neuronal ceroid-lipofuscinoses.

Goebel HH
J Child Neurol 1995 Nov;10(6):424-37. doi: 10.1177/088307389501000602. PMID: 8576551

Adult type of neuronal ceroid lipofuscinosis.

Martin JJ
Dev Neurosci 1991;13(4-5):331-8. doi: 10.1159/000112182. PMID: 1817040

Adult neuronal ceroid-lipofuscinosis.

Goebel HH, Braak H
Clin Neuropathol 1989 May-Jun;8(3):109-19. PMID: 2663281

See all (19)

Therapy

Neuroleptic malignant syndrome in Kufs' disease.

Reif A, Schneider MF, Hoyer A, Schneider-Gold C, Fallgatter AJ, Roggendorf W, Pfuhlmann B
J Neurol Neurosurg Psychiatry 2003 Mar;74(3):385-7. doi: 10.1136/jnnp.74.3.385. PMID: 12588937 Free PMC Article

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Prognosis

Exome-sequencing confirms DNAJC5 mutations as cause of adult neuronal ceroid-lipofuscinosis.

Benitez BA, Alvarado D, Cai Y, Mayo K, Chakraverty S, Norton J, Morris JC, Sands MS, Goate A, Cruchaga C
PLoS One 2011;6(11):e26741. Epub 2011 Nov 4 doi: 10.1371/journal.pone.0026741. PMID: 22073189 Free PMC Article

EEG and granular osmiophilic elements in early-onset Alzheimer's disease.

Alberici A, Borroni B, Bonato C, Agosti C, Avanzi S, Santorelli FM, Simonati A, Padovani A
Neurodegener Dis 2011;8(4):259-61. Epub 2011 Jan 7 doi: 10.1159/000322539. PMID: 21212640

Electroencephalography in autosomal dominant adult neuronal ceroid lipofuscinosis.

Nijssen PC, Brekelmans GJ, Roos RA
Clin Neurophysiol 2009 Oct;120(10):1782-6. Epub 2009 Aug 21 doi: 10.1016/j.clinph.2009.07.042. PMID: 19699676

Adult neuronal ceroid lipofuscinosis presenting with psychiatric symptoms: a case report.

Augustine A, Fricchione G, Woznicki R, Broberg D, Holt J
Int J Psychiatry Med 1993;23(4):315-22. doi: 10.2190/TN58-E7NK-1GKA-UF49. PMID: 8175244

An autopsy case of adult neuronal ceroid lipofuscinosis.

Yazaki M, Totsuka S, Akikusa B, Nagao K
Jpn J Psychiatry Neurol 1986 Dec;40(4):693-700. doi: 10.1111/j.1440-1819.1986.tb03186.x. PMID: 3599568

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