Batten Disease Support and Research Association Australia

Articles are linked to in each heading.

Characterisation of sleep in a mouse model of CLN3 disease revealed sex-specific sleep disturbances.

Kane KM, Iradukunda D, McLouth CJ, Guo LZ, Wang J, Subramoniam A, Huffman D, Donohue KD, O’Hara BF, Sunderam S, Wang QJ. J Sleep Res. 2025 Jan 28:e14461. doi: 10.1111/jsr.14461. Online ahead of print. PMID: 39873354

Clinical, Pathological, and Molecular Findings in a Mexican Patient With Neuronal Ceroid Lipofuscinosis Type 2: Support for Pathogenicity of the c.1226 G>T Variant and for Presence of Cherry-Red Spot in This Disease.

Corcuera-Delgado CT, Ramírez-Ristori AG, Pérez-Muñoz E, Mendizábal-Rodríguez ME, Villarroel CE. Pediatr Dev Pathol. 2025 Jan-Feb;28(1):78-82. doi: 10.1177/10935266241286723. Epub 2024 Dec 23. PMID: 39716776

Activation of D2-like dopamine receptors improves the neuronal network and cognitive function of PPT1KI mice.

Zhao JQ, Feng BY, Ye ZL, Ma XY, Du JZ, Li JM, Wu WL, Gao JJ, Li SJ, Peng SY, Huai JS, Ge LH, Lu CB. Acta Pharmacol Sin. 2025 Feb;46(2):338-352. doi: 10.1038/s41401-024-01377-7. Epub 2024 Sep 16. PMID: 39284877

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

Joy S, Agarwal A, Handique J, Fatima M, Garg D, Sharma P, Rajan R, Garg A, Faruq M, Srivastava AK. Seizure. 2025 Jan;124:66-70. doi: 10.1016/j.seizure.2024.11.017. Epub 2024 Nov 29. PMID: 39667065

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

Morison LD, Whiteman IT, Vogel AP, Tilbrook L, Fahey MC, Braden R, Bredebusch J, Hildebrand MS, Scheffer IE, Morgan AT. J Inherit Metab Dis. 2025 Jan;48(1):e12838. doi: 10.1002/jimd.12838. PMID: 39821609

Twenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease.

Sondhi D, Kaminsky SM, Rosenberg JB, Rostami MR, Hackett NR, Crystal RG. Hum Gene Ther. 2024 Jan;36(1-2):28-35. doi: 10.1089/hum.2024.182. Epub 2025 Jan 2. PMID: 39745261 Clinical Trial.

Gene therapy ameliorates bowel dysmotility and enteric neuron degeneration and extends survival in lysosomal storage disorder mouse models.

Zió?kowska EA, Jansen MJ, Williams LL, Wang SH, Eultgen EM, Takahashi K, Le SQ, Nelvagal HR, Sharma J, Sardiello M, DeBosch BJ, Dickson PI, Anderson JB, Sax SE, Wright CM, Bradley RP, Whiteman IT, Makita T, Grider JR, Sands MS, Heuckeroth RO, Cooper JD. Sci Transl Med. 2025 Jan 15;17(781):eadj1445. doi: 10.1126/scitranslmed.adj1445. Epub 2025 Jan 15. PMID: 39813314

Neuronal ceroid lipofuscinosis 11 (CLN11) presenting with early-onset cone-rod dystrophy and learning difficulties.

Maximiano-Alves G, do Amaral Moreto Caravelas R, Gonçalves TAP, Corniani KF, Nather JC, Geraldi-Tomaselli CV, Frezatti RSS, Fernandes RMF, Dos Santos AC, Marques W, Tomaselli PJ. Neurogenetics. 2025 Jan 15;26(1):20. doi: 10.1007/s10048-025-00800-3. PMID: 39812704

Trehalose Ameliorates Zebrafish Emotional and Social Deficits Caused by CLN8 Dysfunction.

Licitra R, Della Vecchia S, Santucci L, Vivarelli R, Bernardi S, Santorelli FM, Marchese M. Cells. 2025 Jan 5;14(1):55. doi: 10.3390/cells14010055. PMID: 39791756

Further description of the phenotypic spectrum of neuronal ceroid lipofuscinosis type 11.

Nóbrega PR, Paiva ARB, Amorim Junior AD, Lima PLGSB, Cabral KSS, Barcelos IP, Pessoa ALS, Souza-Lima CFL, Castro MAA, Freua F, Santos ES, Rocha MMV, Maia RE, Araújo RS, Ramos JDG, Resende RG, Carvalho GDS, Valença LPA, Lima de Carvalho JR Jr, Melo ES, Pedroso JL, Barsottini OGP, Houlden H, Kok F, Lynch DS. Genet Med. 2025 Jan;27(1):101291. doi: 10.1016/j.gim.2024.101291. Epub 2024 Oct 9. PMID: 39394881

Open-label evaluation of oral trehalose in patients with neuronal ceroid lipofuscinoses.

Della Vecchia S, Gammaldi N, Ricca I, Mero S, Doccini S, Ardissone A, Bagnoli S, Battini R, Colombi E, Favaro J, Furlan R, Giordano L, Ingannato A, Mandelli A, Manzoni FMP, Milito G, Moroni I, Nacmias B, Nardocci N, Parmeggiani L, Pezzini F, Pietrafusa N, Sartori S, Specchio N, Trivisano M, Ets ACL, Simonati A, Santorelli FM; A-NCL ETS Group. J Neurol. 2025 Jan 7;272(1):94. doi: 10.1007/s00415-024-12790-7. PMID: 39775944

Two-year follow-up of gait and postural control following initiation of recombinant human tripeptidyl intracerebroventricular enzyme replacement therapy in two atypical CLN2 patients.

Soangra R, Grant-Beuttler M, Chang H, Wang RY. Sci Rep. 2025 Jan 7;15(1):1042. doi: 10.1038/s41598-024-82157-5. PMID: 39762319

CLN6-related continuum phenotype caused by aberrant splicing.

Invernizzi F, Castellotti B, Reale C, Panteghini C, Colangelo I, Solazzi R, Ragona F, Giordano L, Galli J, Rossi Sebastiano D, Marucci G, Cuccarini V, Didato G, Gellera C, Garavaglia B, Granata T, Canafoglia L. Epilepsia Open. 2024 Dec 24. doi: 10.1002/epi4.13119. Online ahead of print. PMID: 39718800

Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills.

Kayani S, BordesEdgar V, Lowden A, Nettesheim ER, Dahshi H, Messahel S, Minassian BA, Greenberg BM. Orphanet J Rare Dis. 2024 Dec 19;19(1):468. doi: 10.1186/s13023-024-03448-8. PMID: 39702211

GABAAR-PPT1 palmitoylation homeostasis controls synaptic transmission and circuitry oscillation.

Tong J, Gao J, Qi Y, Gao Z, Wang Q, Liu Y, Yuan T, Ren M, Yang G, Li Z, Li J, Sun H, Zhao X, Leung YY, Mu Y, Xu J, Lu C, Peng S, Ge L. Transl Psychiatry. 2024 Dec 18;14(1):488. doi: 10.1038/s41398-024-03206-1. PMID: 39695089

The use of nanocarriers in treating Batten disease: A systematic review.

Henke L, Ghorbani A, Mole SE. Int J Pharm. 2024 Dec 16:125094. doi: 10.1016/j.ijpharm.2024.125094. Online ahead of print. PMID: 39694161 Review.

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Thuppanattumadam Ananthasubramanian S, Padmanabha H, Ravindranadh CM, Kenchiah R, Bhatia S, Santhoshkumar R, Kumar TS, Sukrutha R, Arunachal G, Karthik K, Nagappa M, Nashi S, Mahale R, Viswananthan LG, Pooja M, Nagaraj AR, Ravi Shekar J, Yasha TC, Mahadevan A, Sinha S. J Neurol Sci. 2024 Dec 9;468:123338. doi: 10.1016/j.jns.2024.123338. Online ahead of print. PMID: 39675099

Six induced pluripotent stem cell lines from fibroblasts of individuals with CLN3-related conditions.

Dwojak E, O’Mard D, Zou J, Wassif CA, Burkett S, Eckhaus M, Rueda Faucz F, Padilla C, Villasmil R, Zheng W, Dang Do AN. Stem Cell Res. 2024 Dec;81:103563. doi: 10.1016/j.scr.2024.103563. Epub 2024 Sep 18. PMID: 39317061

A Novel Variant of the CTSD Gene Associated with Juvenile-onset Neuronal Ceroid Lipofuscinosis Type 10: A Case Report and Literature Review.

Çiçek S, Y?ld?r?m M, Tabanl? FP, Köse E, Bekta? Ö, Teber S. Cerebellum. 2024 Dec 10;24(1):7. doi: 10.1007/s12311-024-01773-z. PMID: 39656415 Review.

[Study of a case of Juvenile neuronal ceroid lipofuscinosis due to compound heterozygous variants of PPT1 gene].

Zhang D, Xu F, Bao Y, Xu Y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2024 Dec 10;41(12):1469-1472. doi: 10.3760/cma.j.cn511374-20240927-00510. PMID: 39653353 Chinese.

The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling in Drosophila.

Yu Z, Yan J, Liu Z, Wang H, Luo G, Chen H. Front Cell Dev Biol. 2025 Jan 23;13:1508714. doi:10.3389/fcell.2025.1508714. eCollection 2025. PMID: 39917569

PUBLICATION HIGHLIGHTS – December 2024 to February 2025