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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: 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]

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

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: 30249282Free 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: 27412140Free 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

Diagnosis

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: 27412140Free 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
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

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: 12588937Free PMC Article

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: 22073189Free 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

Clinical prediction guides

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: 30249282Free PMC Article
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: 22073189Free PMC Article
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
Adult neuronal ceroid-lipofuscinosis--personal observations.
Martin JJ, Ceuterick C
Acta Neurol Belg 1997 Jun;97(2):85-92. PMID: 9246375
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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