Batten Disease Support and Research Association Australia

Articles are linked to in each heading.

The Case for Master Protocols for Rare Neurological Diseases.

Vermilion J, Paganoni S, Plotkin SR, Quintana M, Calvert SB, Whiteman IT, Wang RY, Moore N, Augustine EF.

Ann Neurol. 2026 Jul 21. doi: 10.1002/ana.78311. Online ahead of print.

PMID: 42478739

Phenotypic and Genetic Characterization of 64 Egyptian Children With Neuronal Ceroid Lipofuscinosis.

Abdelkreem E, Sadek AA, Aladawy MA, Rezk ZN, Salamah A, Rafat K, Magdy RM, Issa MY, El Hadad AF, Elbendary HM, Mansour TMM, Bakri AH, Abdel-Hamid MS, Zaki MS.

Pediatr Neurol. 2026 Jul 8;183:115-125. doi: 10.1016/j.pediatrneurol.2026.07.005. Online ahead of print.

PMID: 42551284

Morphometric Brain Changes in a Merino Sheep (Ovis aries) CLN6 Neuronal Ceroid Lipofuscinosis Model.

Nanni A, Elcombe E, Cheung MHM, Stait-Gardner T, Gimeno M, Tammen I, Keller MD.

Biology (Basel). 2026 Jul 10;15(14):1114. doi: 10.3390/biology15141114.

PMID: 42510664

From larynx to limbs-neuronal ceroid lipofuscinoses presenting with a predominant dystonia phenotype in siblings.

Kaur R, Agarwal A, Srivastava AK, Garg D.

Parkinsonism Relat Disord. 2026 Jul 27:108901. doi: 10.1016/j.parkreldis.2026.108901. Online ahead of print.

PMID: 42521590 No abstract available.

Sex-dependent clinical divergence in adult-onset CLN6-Batten disease: a case study of a Chinese brother-sister pair.

Liu SY, Tsai SJ, Liu MN.

Neurocase. 2026 Jul 29:1-7. doi: 10.1080/13554794.2026.2704842. Online ahead of print.

PMID: 42523144

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 (Basel). 2026 Jun 30;17(7):758. doi: 10.3390/genes17070758.

PMID: 42510798 Free PMC article. Review.

Atlas of lysosomal aging reveals a metabolite signature shared with lysosomal storage disorders.

Puszynska AM, Nguyen TP, Cangelosi AL, Armani A, Roberts JM, Singh KA, Cameron JC, Tseyang T, Liu GY, Lai S, Sprenger HG, Yang J, Colgan WN, Kedir JF, Kajderowicz KM, Esantsi TK, Lu YR, Waite M, Kunchok T, Lewis CA, Schulte F, Bell GW, Sabatini DM, Weissman JS.

Science. 2026 Jul 30;393(6810):eady0832. doi: 10.1126/science.ady0832. Epub 2026 Jul 30.

PMID: 42531412

Chronic oral cannabidiol delays seizure onset and reduces seizure burden in a mouse model of CLN2 disease.

Dearborn JT, Takahashi K, Rensing NR, Wong M, Cooper JD, Sands MS.

PLoS One. 2026 Jul 20;21(7):e0337880. doi: 10.1371/journal.pone.0337880. eCollection 2026.

PMID: 42475369

Progressive Orexin Deficiency and Age-Dependent Glial and Axonal Biomarkers in juvenile neuronal ceroid lipofuscinosis type 3 (CLN3) Disease.

Wasling P, Blomqvist J, Olsson-Engman M, Darin N.

Pediatr Neurol. 2026 Aug;181:114-120. doi: 10.1016/j.pediatrneurol.2026.05.015. Epub 2026 May 29.

PMID: 42314400

Thapsigargin-induced autophagic flux impairment and inflammation are potentiated by CLN3 deficiency and alleviated by 5-aminoimidazole-4-carboxamide ribonucleoside (AICAR) in human ARPE-19?cells.

Torsti T, Hytti M, Toppila M, Forsberg MM, Kauppinen A.

Biochem Biophys Res Commun. 2026 Sep 3;829:154157. doi: 10.1016/j.bbrc.2026.154157. Epub 2026 Jun 16.

PMID: 42308764

Expanding the genotypic landscape of the neuronal ceroid lipofuscinoses: clinical and molecular findings from a tertiary-care center in Argentina.

Touzon MS, Reyes Valenzuela G, Loos M, Gonzalez B, Gauto A, Obregón Gomez R, Chico Andrade ZE, Rugilo C, Princich JP, Aschettino G, Alonso C, Juanes M, Caraballo RH.

Seizure. 2026 Jun 24;141:26-33. doi: 10.1016/j.seizure.2026.06.015. Online ahead of print.

PMID: 42413193

A human lysosomal storage disorder toolkit for decoding proteome landscapes in cortical-like and dopaminergic-like induced neurons.

Kraus F, He Y, Jiang Y, Li D, Ambaw YA, Gasparoli FM, Paulo JA, Walther TC, Farese RV Jr, Gygi SP, Wilfling F, Harper JW.

Proc Natl Acad Sci U S A. 2026 Jul 7;123(27):e2609132123. doi: 10.1073/pnas.2609132123. Epub 2026 Jul 1.

PMID: 42384675

Bi-allelic TPP1 variants in neuronal ceroid lipofuscinosis 2: clinical findings from an Iranian cohort of 20 patients, founder effect, and in silico analyses.

Biglari S, Rezaei H, Asadollahzadeh E, Nikuei P, Sahraian MA, Sohanforooshan Moghaddam A, Vahidnezhad H, Youssefian L, Galehdari H, Seifi T, Chamanrou N, Heydaran S, Parvas S, Shariati G, Saberi A, Hamid M, Zareei T, Tabasi S, Ranjbar S, Khademi G, Golmakani H, Hashemi N, Akhavan H, Naseri M, Donyadideh N, Barkhordari E, Beiraghi Toosi M, Arabi S, Heidari N, Eghbal F, Badpar H, Saeidinia A, Imannezhad S, Bagheri S, Lotfi M, Mirsadraee M, Loghmani T, Darabi A, Derafshi R, Behmadi M, Boskabadi A, Akhondian S, Eshraghi P, Hosseini M, Farhat A, Ghane Sharbaf F, Norooziasl S, Ghaemi N, Ahangari N, Etemadifar M, Moosavian T, Shervin Badv R, Houlden H, Sarraf P, Haghighatzadeh M, Heidari M, Ghayoor Karimiani E.

Hum Genet. 2026 Feb 2;145(1):17. doi: 10.1007/s00439-025-02812-3.

PMID: 41627539

Psychiatric manifestations in Neuronal ceroid lipofuscinoses.

Della Vecchia S, Simonati A, Marchese M, Berloffa S, Kohlschütter A, Santorelli FM.

Orphanet J Rare Dis. 2026 Jun 15. doi: 10.1186/s13023-026-04416-0. Online ahead of print.

PMID: 42298645 Review.

Behavioral and emotional symptoms and quality of life in a national sample of individuals with CLN3 Batten disease.

Oerbeck B, Helland IB, Adams HR, Overgaard KR.

Orphanet J Rare Dis. 2026 Jun 11. doi: 10.1186/s13023-026-04436-w. Online ahead of print.

PMID: 42277918

Exploratory Analysis of Neuroimaging and Molecular Findings in a Cohort of Neuronal Ceroid Lipofuscinosis: a Descriptive study.

Rahimian E, Tahsini MR, Fathi M, Khalilian S, Farahvash MA, Tavasoli AR, Shahbodagh Khan G, Ashrafi MR, Saket S, Rahmanian M, Miryounesi M, Ghafouri-Fard S, Heidari M.

J Mol Neurosci. 2026 Jun 12;76(2):103. doi: 10.1007/s12031-026-02553-6.

PMID: 42283952

Mapping Clinical Progression to Brain Atrophy in CLN2 Patients Under Cerliponase Alfa Treatment: A Prospective Neuroimaging Study.

Petersen M, Westermann LM, Hagenah L, Nickel M, Schwering C, Wibbeler E, Naegele FL, Gloyer NO, Flottmann F, Fiehler J, Thomalla G, Cheng B, Schulz A.

J Inherit Metab Dis. 2026 May;49(3):e70202. doi: 10.1002/jimd.70202.

PMID: 42175674

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, Okanishi T, Maegaki Y.

Yonago Acta Med. 2026 May 24;69(2):223-227. doi: 10.33160/yam.2026.05.009. eCollection 2026 May.

PMID: 42186472 Free PMC article.

The changing landscape of bluetongue in northern Europe.

England M, Balenghien T, Batten C, Bréard E, De Leeuw I, De Regge N, Duhayon M, Garros C, Hammami P, Holwerda M, Murchie A, Sanders C, Uiterwijk M, van den Brom R, Veronesi E, Gubbins S.

J Med Entomol. 2026 May 5;63(3):tjag071. doi: 10.1093/jme/tjag071.

PMID: 42179342 Review.

Reversible synaptic deficits in early-stage batten disease.

Wani MA, Hall CM, Mittmann T, Grünewald B, von Engelhardt J.

J Transl Med. 2026 May 20. doi: 10.1186/s12967-026-08304-w. Online ahead of print.

PMID: 42163273

AI-driven insights into protein misfolding and innate immunity in neurodegenerative diseases.

Deng HX, Cao JL, Wu Y, Jiang SJ, Fang QQ, Zhu BY, Jiang YJ.

Front Immunol. 2026 May 12;17:1814357. doi: 10.3389/fimmu.2026.1814357. eCollection 2026.

PMID: 42206050 Free PMC article. Review.

PUBLICATION HIGHLIGHTS – June 2026 to August 2026