Research & Literature

Cysteine string protein (CSP) and its role in preventing neurodegeneration.

Burgoyne RD, Morgan A

Seminars in cell & developmental biology 2015; (40()):153-9.

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.

Clinically early-stage CSPα mutation carrier exhibits remarkable terminal stage neuronal pathology with minimal evidence of synaptic loss.

Benitez BA, Cairns NJ, Schmidt RE, et al.

Acta neuropathologica communications 2015; (3()):73 doi:10.1186/s40478-015-0256-5.

Moving towards effective therapeutic strategies for Neuronal Ceroid Lipofuscinosis.

Geraets RD, Koh Sy, Hastings ML, et al.

Orphanet journal of rare diseases 2016; (11()):40 doi:10.1186/s13023-016-0414-2.

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.

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.

A cluster of palmitoylated cysteines are essential for aggregation of cysteine-string protein mutants that cause neuronal ceroid lipofuscinosis.

Diez-Ardanuy C, Greaves J, Munro KR, et al.

Scientific reports 2017; (7(1)):10 doi:10.1038/s41598-017-00036-8.

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.

Primary fibroblasts from CSPα mutation carriers recapitulate hallmarks of the adult onset neuronal ceroid lipofuscinosis.

Benitez BA, Sands MS

Scientific reports 2017; (7(1)):6332 doi:10.1038/s41598-017-06710-1.

Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.

Katz ML, Rustad E, Robinson GO, et al.

Neurobiology of disease 2017; (108()):277-287 doi:10.1016/j.nbd.2017.08.017.

Evidence for Cholinergic Dysfunction in Autosomal Dominant Kufs Disease.

Jarrett P, Easton A, Rockwood K, et al.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques 2018; (45(2)):150-157 doi:10.1017/cjn.2017.261.

Juvenile neuronal ceroid lipofuscinosis (Batten disease): current insights.

Ostergaard JR

Degenerative neurological and neuromuscular disease 2016; (6()):73-83 doi:10.2147/DNND.S111967.

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.

Mole SE, Anderson G, Band HA, et al.

The Lancet. Neurology 2019; (18(1)):107-116 doi:10.1016/S1474-4422(18)30368-5.

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.

A 12-kb structural variation in progressive myoclonic epilepsy was newly identified by long-read whole-genome sequencing.

Mizuguchi T, Suzuki T, Abe C, et al.

Journal of human genetics 2019; (64(5)):359-368 doi:10.1038/s10038-019-0569-5.

An Italian multicentre study of perampanel in progressive myoclonus epilepsies.

Canafoglia L, Barbella G, Ferlazzo E, et al.

Epilepsy research 2019; (156()):106191 doi:10.1016/j.eplepsyres.2019.106191.

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.

A Drosophila model of neuronal ceroid lipofuscinosis CLN4 reveals a hypermorphic gain of function mechanism.

Imler E, Pyon JS, Kindelay S, et al.

eLife 2019; (8()).

Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing.

Jedličková I, Cadieux-Dion M, Přistoupilová A, et al.

European journal of human genetics : EJHG 2020; (28(6)):783-789 doi:10.1038/s41431-019-0567-2.

Aggregation of mutant cysteine string protein-α via Fe-S cluster binding is mitigated by iron chelators.

Naseri NN, Ergel B, Kharel P, et al.

Nature structural & molecular biology 2020; (27(2)):192-201 doi:10.1038/s41594-020-0375-y.

Autosomal dominant neuronal ceroid lipofuscinosis: Clinical features and molecular basis.

Naseri N, Sharma M, Velinov M

Clinical genetics 2021; (99(1)):111-118 doi:10.1111/cge.13829.

The improvement in diagnosis and epilepsy managing in children with progressive myoclonus epilepsy during the last decade - A tertiary center experience in cohort of 51 patients.

Kravljanac R, Vucetic Tadic B, Djordjevic M, et al.

Epilepsy & behavior : E&B 2020; (113()):107456 doi:10.1016/j.yebeh.2020.107456.

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.

Pearls & Oy-sters: Levodopa-Responsive Adult NCL (Type B Kufs Disease) Due to CLN6 Mutation.

Cherian A, K P D, Paramasivan NK, Krishnan S

Neurology 2021; (96(21)):e2662-e2665 doi:10.1212/WNL.0000000000011997.

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.

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.

Patient-Derived Induced Pluripotent Stem Cell Models for Phenotypic Screening in the Neuronal Ceroid Lipofuscinoses.

Morsy A, Carmona AV, Trippier PC

Molecules (Basel, Switzerland) 2021; (26(20)) doi:10.3390/molecules26206235.

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.

Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.

Simonati A, Williams RE

Frontiers in neurology 2022; (13()):811686 doi:10.3389/fneur.2022.811686.

Adult-Onset Neuronal Ceroid Lipofuscinosis With a Novel DNAJC5 Mutation Exhibits Aberrant Protein Palmitoylation.

Huang Q, Zhang YF, Li LJ, et al.

Frontiers in aging neuroscience 2022; (14()):829573 doi:10.3389/fnagi.2022.829573.

Abnormal triaging of misfolded proteins by adult neuronal ceroid lipofuscinosis-associated DNAJC5/CSPα mutants causes lipofuscin accumulation.

Lee J, Xu Y, Saidi L, et al.

Autophagy 2023; (19(1)):204-223 doi:10.1080/15548627.2022.2065618.

CSPα in neurodegenerative diseases.

Huang L, Zhang Z

Frontiers in aging neuroscience 2022; (14()):1043384 doi:10.3389/fnagi.2022.1043384.

Rare adult neuronal ceroid lipofuscinosis associated with CLN6 gene mutations: A case report.

Wang XQ, Chen CB, Zhao WJ, et al.

World journal of clinical cases 2023; (11(15)):3533-3541 doi:10.12998/wjcc.v11.i15.3533.

L116 Deletion in CSPα Promotes α-Synuclein Aggregation and Neurodegeneration.

Guo T, Xiong J, Feng H, et al.

Molecular neurobiology 2024; (61(1)):15-27 doi:10.1007/s12035-023-03552-z.

Adult-onset Kufs disease.

Kelly A, Dunne J, Orr C, Lawn N

Practical neurology 2024; (24(1)):41-44 doi:10.1136/pn-2022-003652.

Proximity labelling reveals effects of disease-causing mutation on the DNAJC5/cysteine string protein α interactome.

Barker E, Milburn A, Helassa N, et al.

The Biochemical journal 2024; doi:10.1042/BCJ20230319.

Neuronal ceroid lipofuscinosis type 11 diagnosed patient with bi-allelic variants in GRN gene: case report and review of literature.

Sürücü Kara İ, Köse E, Çavdarlı B, Eminoğlu FT

Journal of pediatric endocrinology & metabolism : JPEM 2024; (37(3)):280-288 doi:10.1515/jpem-2023-0411.

Successful Treatment of Both Refractory Neuroleptic Malignant Syndrome and Subsequent Catatonia With Electroconvulsive Therapy in a Patient With Suspected Kufs Disease.

Celik S, de Gennaro V, C-P-Silva J, et al.

The journal of ECT 2025; (41(1)):66-67 doi:10.1097/YCT.0000000000001027.

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.

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.

Unraveling Neuronal Ceroid Lipofuscinosis: Insights From Two Pediatric Cases in Peripheral India.

Aman N, Panapil AG, Utage P

Journal of child neurology 2026; (41(1)):89-93 doi:10.1177/08830738251346920.

Autosomal dominant Kufs disease in a Georgian adult woman: A case report.

Papiashvili N, Gagua S, Gonjilashvili N, et al.

Epilepsy & behavior reports 2025; (32()):100805 doi:10.1016/j.ebr.2025.100805.

CHIP protects lysosomes from CLN4 mutant-induced membrane damage.

Lee J, Chin N, Zou J, et al.

Nature cell biology 2025; (27(9)):1465-1481 doi:10.1038/s41556-025-01738-2.

Progressive Myoclonic Epilepsies - A Pragmatic Review.

Cherian A, Divya KP

Neurology India 2026; (74(2)):175-183 doi:10.4103/neurol-india.Neurol-India-D-25-00075.

Topiramate-Responsive Myoclonic Status Epilepticus in a Child with Progressive Myoclonus Epilepsy Due to Neuronal Ceroid Lipofuscinosis Type 8: A Case Report.

Tsuchie H, Kawanami Y, Yoshino G, et al.

Yonago acta medica 2026; (69(2)):223-227 doi:10.33160/yam.2026.05.009.

Psychiatric manifestations in Neuronal ceroid lipofuscinoses.

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

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