Research & Literature

Cell biology of the NCL proteins: What they do and don't do.

Cárcel-Trullols J, Kovács AD, Pearce DA

Biochimica et biophysica acta 2015; (1852(10 Pt B)):2242-55.

Genetics of the neuronal ceroid lipofuscinoses (Batten disease).

Mole SE, Cotman SL

Biochimica et biophysica acta 2015; (1852(10 Pt B)):2237-41.

Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.

Di Fruscio G, Schulz A, De Cegli R, et al.

Autophagy 2015; (11(6)):928-38 doi:10.1080/15548627.2015.1043077.

Brain imaging in Kufs disease type B: case reports.

Di Fabio R, Colonnese C, Santorelli FM, et al.

BMC neurology 2015; (15()):102 doi:10.1186/s12883-015-0357-6.

Caregiver burden in atypical dementias: comparing frontotemporal dementia, Creutzfeldt-Jakob disease, and Alzheimer's disease.

Uflacker A, Edmondson MC, Onyike CU, Appleby BS

International psychogeriatrics 2016; (28(2)):269-73 doi:10.1017/S1041610215001647.

Chorea in Late-Infantile Neuronal Ceroid Lipofuscinosis: An Atypical Presentation.

Saini AG, Sankhyan N, Singhi P

Pediatric neurology 2016; (60()):75-8.

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

Berkovic SF, Staropoli JF, Carpenter S, et al.

Neurology 2016; (87(6)):579-84 doi:10.1212/WNL.0000000000002943.

Exome sequencing in a consanguineous family clinically diagnosed with early-onset Alzheimer's disease identifies a homozygous CTSF mutation.

Bras J, Djaldetti R, Alves AM, et al.

Neurobiology of aging 2016; (46()):236.e1-6.

Mutated CTSF in adult-onset neuronal ceroid lipofuscinosis and FTD.

van der Zee J, Mariën P, Crols R, et al.

Neurology. Genetics 2016; (2(5)):e102 doi:10.1212/NXG.0000000000000102.

Using the social amoeba Dictyostelium to study the functions of proteins linked to neuronal ceroid lipofuscinosis.

Huber RJ

Journal of biomedical science 2016; (23(1)):83 doi:10.1186/s12929-016-0301-0.

Management Strategies for CLN2 Disease.

Williams RE, Adams HR, Blohm M, et al.

Pediatric neurology 2017; (69()):102-112 doi:10.1016/j.pediatrneurol.2017.01.034.

Long-term follow-up of two siblings with adult-onset neuronal ceroid lipofuscinosis, Kufs type A.

Özkara Ç, Gündüz A, Coşkun T, et al.

Epileptic disorders : international epilepsy journal with videotape 2017; (19(2)):147-151 doi:10.1684/epd.2017.0911.

Novel compound heterozygous mutations causing Kufs disease type B.

Wang C, Xu H, Yuan Y, et al.

The International journal of neuroscience 2018; (128(6)):573-576 doi:10.1080/00207454.2017.1403439.

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

Journal of medical case reports 2018; (12(1)):281 doi:10.1186/s13256-018-1788-7.

A novel two-day intervention reduces stress in caregivers of persons with dementia.

Spalding-Wilson KN, Guzmán-Vélez E, Angelica J, et al.

Alzheimer's & dementia (New York, N. Y.) 2018; (4()):450-460 doi:10.1016/j.trci.2018.08.004.

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Mastrangelo M, Sartori S, Simonati A, et al.

European journal of medical genetics 2019; (62(12)):103591 doi:10.1016/j.ejmg.2018.11.025.

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.

Berkovic SF, Oliver KL, Canafoglia L, et al.

Brain : a journal of neurology 2019; (142(1)):59-69 doi:10.1093/brain/awy297.

Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses.

Kohlschütter A, Schulz A, Bartsch U, Storch S

CNS drugs 2019; (33(4)):315-325 doi:10.1007/s40263-019-00620-8.

Overview of advances in educational and social supports for young persons with NCL disorders.

Elmerskog B, Tøssebro AG, Atkinson R, et al.

Biochimica et biophysica acta. Molecular basis of disease 2020; (1866(9)):165480 doi:10.1016/j.bbadis.2019.05.016.

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis.

Mastrangelo M, Alfonsi C, Screpanti I, et al.

Molecular genetics and metabolism reports 2019; (21()):100502 doi:10.1016/j.ymgmr.2019.100502.

The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.

Orsini A, Valetto A, Bertini V, et al.

Seizure 2019; (71()):247-257 doi:10.1016/j.seizure.2019.08.012.

Paediatric-onset neuronal ceroid lipofuscinosis: first symptoms and presentation at diagnosis.

Dozières-Puyravel B, Nasser H, Elmaleh-Bergès M, et al.

Developmental medicine and child neurology 2020; (62(4)):528-530 doi:10.1111/dmcn.14346.

Pharmacotherapy of Behavioral and Psychological Symptoms of Dementia: State of the Art and Future Progress.

Magierski R, Sobow T, Schwertner E, Religa D

Frontiers in pharmacology 2020; (11()):1168 doi:10.3389/fphar.2020.01168.

Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.

Specchio N, Ferretti A, Trivisano M, et al.

Drugs 2021; (81(1)):101-123 doi:10.1007/s40265-020-01440-7.

Guidelines on the diagnosis, clinical assessments, treatment and management for CLN2 disease patients.

Mole SE, Schulz A, Badoe E, et al.

Orphanet journal of rare diseases 2021; (16(1)):185 doi:10.1186/s13023-021-01813-5.

Agitation and Dementia: Prevention and Treatment Strategies in Acute and Chronic Conditions.

Carrarini C, Russo M, Dono F, et al.

Frontiers in neurology 2021; (12()):644317 doi:10.3389/fneur.2021.644317.

Management of CLN1 Disease: International Clinical Consensus.

Augustine EF, Adams HR, de Los Reyes E, et al.

Pediatric neurology 2021; (120()):38-51 doi:10.1016/j.pediatrneurol.2021.04.002.

Ethical Issues in Care and Treatment of Neuronal Ceroid Lipofuscinoses (NCL)-A Personal View.

Kohlschütter A

Frontiers in neurology 2021; (12()):692527 doi:10.3389/fneur.2021.692527.

CLN3, at the crossroads of endocytic trafficking.

Cotman SL, Lefrancois S

Neuroscience letters 2021; (762()):136117 doi:10.1016/j.neulet.2021.136117.

Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.

Chartier S, Boutaud L, Le Guillou E, et al.

Birth defects research 2021; (113(18)):1324-1332 doi:10.1002/bdr2.1950.

Behavioral and Cognitive Response to Selective Serotonin Reuptake Inhibitors in Frontotemporal Lobar Degeneration: A Systematic Review and Meta-analysis.

Nisar M, Abubaker ZJ, Nizam MA, et al.

Clinical neuropharmacology 2021; (44(5)):175-183 doi:10.1097/WNF.0000000000000469.

Neuroinflammation in Gaucher disease, neuronal ceroid lipofuscinosis, and commonalities with Parkinson's disease.

Francelle L, Mazzulli JR

Brain research 2022; (1780()):147798 doi:10.1016/j.brainres.2022.147798.

Novel frameshift CTSF mutation causing kufs disease type B mimicking frontotemporal dementia-parkinsonism.

Gultekin M, Tufekcioglu Z, Baydemir R

Neurocase 2022; (28(1)):107-109 doi:10.1080/13554794.2022.2038635.

Comparative efficacy of 11 non-pharmacological interventions on depression, anxiety, quality of life, and caregiver burden for informal caregivers of people with dementia: A systematic review and network meta-analysis.

Sun Y, Ji M, Leng M, et al.

International journal of nursing studies 2022; (129()):104204 doi:10.1016/j.ijnurstu.2022.104204.

Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease).

Kim WD, Wilson-Smillie MLDM, Thanabalasingam A, et al.

Frontiers in cell and developmental biology 2022; (10()):812728 doi:10.3389/fcell.2022.812728.

Palliative Care in Amyotrophic Lateral Sclerosis.

Mercadante S, Al-Husinat L

Journal of pain and symptom management 2023; (66(4)):e485-e499 doi:10.1016/j.jpainsymman.2023.06.029.

The Psychiatric Care of Children and Young Adults With Neurodegenerative Diseases.

Hauptman AJ, Augustine EF, Brown HB

Journal of the American Academy of Child and Adolescent Psychiatry 2024; (63(12)):1193-1195 doi:10.1016/j.jaac.2024.02.001.

A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease.

Chen B, Liu Y, Cai N, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2024; (45(9)):4597-4600 doi:10.1007/s10072-024-07579-5.

Behaviours and psychological symptoms of childhood dementia: two cases of psychosocial interventions.

Atee M, Whiteman I, Lloyd R, Morris T

Palliative care and social practice 2024; (18()):26323524241273492 doi:10.1177/26323524241273492.

A novel pathogenic variant in the KCTD7 gene in a patient with neuronal ceroid lipofuscinosis (CLN14): a case report and review of the literature.

Zeineddin S, Matar G, Abosaif Y, et al.

BMC neurology 2024; (24(1)):367 doi:10.1186/s12883-024-03868-w.

Adult-onset neuronal ceroid lipofuscinosis misdiagnosed as autoimmune encephalitis and normal-pressure hydrocephalus: A 10-year case report and case-based review.

Huang H, Liao Y, Yu Y, et al.

Medicine 2024; (103(43)):e40248 doi:10.1097/MD.0000000000040248.

Drug-refractory epilepsy due to a novel CLN5 mutation: A report of three patients from an Indian family.

Joy S, Agarwal A, Handique J, et al.

Seizure 2025; (124()):66-70 doi:10.1016/j.seizure.2024.11.017.

Clinical Heterogeneity of Neuronal Ceroid Lipofuscinosis Type 13: A Case Report and Systematic Review of Literature.

Ghayal NB, Roemer SF, Tipton PW, et al.

Neurology. Genetics 2025; (11(1)):e200227 doi:10.1212/NXG.0000000000200227.

Speech, Language and Non-verbal Communication in CLN2 and CLN3 Batten Disease.

Morison LD, Whiteman IT, Vogel AP, et al.

Journal of inherited metabolic disease 2025; (48(1)):e12838 doi:10.1002/jimd.12838.

Impact of Neuropsychiatric Symptoms on Caregiver Burden of People With Dementia With Lewy Bodies: A Multicentre Prospective Longitudinal Study.

Hayashi H, Kobayashi R, Shibuya Y, et al.

Psychogeriatrics : the official journal of the Japanese Psychogeriatric Society 2025; (25(4)):e70051 doi:10.1111/psyg.70051.

Case Report: The window that closed too soon: lessons from a late CLN2 diagnosis and death of a 9-year-old boy.

Bryzik A, Larysz D, Larysz P, et al.

Frontiers in genetics 2025; (16()):1622185 doi:10.3389/fgene.2025.1622185.

Persistent lymphopenia in a Japanese boy with neuronal ceroid lipofuscinosis type 3.

Kajiwara K, Liang Q, Uchiyama Y, et al.

European journal of medical genetics 2025; (78()):105058 doi:10.1016/j.ejmg.2025.105058.

Factors impacting caregiver burden in Parkinson's disease: A systematic review and meta-analysis.

Sin WWF, Chan LML, Ng CTY, et al.

International journal of nursing studies 2025; (174()):105299 doi:10.1016/j.ijnurstu.2025.105299.

Lipofuscin accumulation in aging and CLN1 is associated with deficient de-S-acylation, lyso-mitochondrial dysfunction, and lipid dyshomeostasis.

Tieze SM, Esqueda A, McAllister R, et al.

Acta neuropathologica 2026; (151(1)).

Stepwise surgical management of severe dysphagia in multiple system atrophy.

Ogawa Y, Ueha R, Goto T, et al.

Auris, nasus, larynx 2026; (53(4)):596-601 doi:10.1016/j.anl.2026.06.005.

Psychiatric manifestations in Neuronal ceroid lipofuscinoses.

Della Vecchia S, Simonati A, Marchese M, et al.

Orphanet journal of rare diseases 2026; (21(1)).

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls.

Cipriano L, Petillo R, Priolo M, D'Ambrosio P

Genes 2026; (17(7)) doi:10.3390/genes17070758.