Research & Literature

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.

Paradisi I, Ikonomu V, Arias S

Journal of human genetics 2016; (61(3)):215-22 doi:10.1038/jhg.2015.131.

Striatal glucose hypometabolism in preadolescent-onset dentatorubral-pallidoluysian atrophy.

Sone D, Sato N, Yokoyama K, et al.

Journal of the neurological sciences 2016; (360()):121-4.

Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil.

Braga-Neto P, Pedroso JL, Furtado GV, et al.

Cerebellum (London, England) 2017; (16(4)):812-816 doi:10.1007/s12311-017-0862-9.

Cognitive Changes in the Spinocerebellar Ataxias Due to Expanded Polyglutamine Tracts: A Survey of the Literature.

Lindsay E, Storey E

Brain sciences 2017; (7(7)) doi:10.3390/brainsci7070083.

Efficacy of perampanel for controlling seizures and improving neurological dysfunction in a patient with dentatorubral-pallidoluysian atrophy (DRPLA).

Shiraishi H, Egawa K, Ito T, et al.

Epilepsy & behavior case reports 2017; (8()):44-46 doi:10.1016/j.ebcr.2017.05.004.

Stall in Canonical Autophagy-Lysosome Pathways Prompts Nucleophagy-Based Nuclear Breakdown in Neurodegeneration.

Baron O, Boudi A, Dias C, et al.

Current biology : CB 2017; (27(23)):3626-3642.e6 doi:10.1016/j.cub.2017.10.054.

Clinical and magnetic resonance imaging features of elderly onset dentatorubral-pallidoluysian atrophy.

Sugiyama A, Sato N, Nakata Y, et al.

Journal of neurology 2018; (265(2)):322-329 doi:10.1007/s00415-017-8705-7.

Clinical Features of Huntington's Disease.

Ghosh R, Tabrizi SJ

Advances in experimental medicine and biology 2018; (1049()):1-28 doi:10.1007/978-3-319-71779-1_1.

Successful Treatment with Olanzapine of Psychosis in Dentatorubral-pallidoluysian Atrophy: A Case Report.

Narita Z, Sumiyoshi T

Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of Neuropsychopharmacology 2018; (16(2)):221-223 doi:10.9758/cpn.2018.16.2.221.

Successful treatment of psychosis in dentatorubral-pallidoluysian atrophy with quetiapine: A case report.

Narita Z, Sumiyoshi T

Neuropsychopharmacology reports 2018; (38(1)):44-46 doi:10.1002/npr2.12005.

Dentatorubral-pallidoluysian Atrophy: An Update.

Carroll LS, Massey TH, Wardle M, Peall KJ

Tremor and other hyperkinetic movements (New York, N.Y.) 2018; (8()):577 doi:10.7916/D81N9HST.

Huntington's Disease, Huntington's Disease Look-Alikes‎, and Benign Hereditary Chorea: What's New?

Schneider SA, Bird T

Movement disorders clinical practice 2016; (3(4)):342-354 doi:10.1002/mdc3.12312.

Childhood-onset cerebellar ataxia in Japan: A questionnaire-based survey.

Ono H, Shimizu-Motohashi Y, Maruo K, et al.

Brain and behavior 2019; (9(10)):e01392 doi:10.1002/brb3.1392.

The largest caucasian kindred with dentatorubral-pallidoluysian atrophy: A founder mutation in italy.

Grimaldi S, Cupidi C, Smirne N, et al.

Movement disorders : official journal of the Movement Disorder Society 2019; (34(12)):1919-1924 doi:10.1002/mds.27879.

The cerebellar white matter lesions in dentatorubral-pallidoluysian atrophy.

Sugiyama A, Sato N, Kimura Y, et al.

Journal of the neurological sciences 2020; (416()):117040 doi:10.1016/j.jns.2020.117040.

Coexistence of dentatorubral-pallidoluysian atrophy and Parkinson's disease: An autopsy case report.

Kim SI, Kim H, Park JW, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2021; (41(3)):196-205 doi:10.1111/neup.12720.

The rare and the common: An Austrian DRPLA family harboring the European haplotype.

Amprosi M, Zech M, Lichtner P, et al.

Parkinsonism & related disorders 2021; (87()):119-121 doi:10.1016/j.parkreldis.2021.04.024.

Pallidal degenerations and related disorders: an update.

Jellinger KA

Journal of neural transmission (Vienna, Austria : 1996) 2022; (129(5-6)):521-543 doi:10.1007/s00702-021-02392-2.

DRPLA: An unusual disease or an underestimated cause of ataxia in Brazil?

Pinto WBVR, Salomão RPA, Bergamasco NC, et al.

Parkinsonism & related disorders 2021; (92()):67-71 doi:10.1016/j.parkreldis.2021.10.004.

CAG repeat-binding small molecule improves motor coordination impairment in a mouse model of Dentatorubral-pallidoluysian atrophy.

Hasuike Y, Tanaka H, Gall-Duncan T, et al.

Neurobiology of disease 2022; (163()):105604 doi:10.1016/j.nbd.2021.105604.

Single-Tube Screen for Rapid Detection of Repeat Expansions in Seven Common Spinocerebellar Ataxias.

Lian M, Limwongse C, Yoon CS, et al.

Clinical chemistry 2022; (68(6)):794-802 doi:10.1093/clinchem/hvac011.

Assessment and treatment of neurogenic dysphagia in stroke and Parkinson's disease.

Cosentino G, Todisco M, Giudice C, et al.

Current opinion in neurology 2022; (35(6)):741-752 doi:10.1097/WCO.0000000000001117.

Atrophin-1 Function and Dysfunction in Dentatorubral-Pallidoluysian Atrophy.

Nowak B, Kozlowska E, Pawlik W, Fiszer A

Movement disorders : official journal of the Movement Disorder Society 2023; (38(4)):526-536 doi:10.1002/mds.29355.

The relationship between the number of CAG repeats and clinical manifestations: a survey of Chinese DRPLA family.

Sun S, Zhao W, Liu X

Acta neurologica Belgica 2023; (123(4)):1505-1510 doi:10.1007/s13760-023-02288-w.

Infantile-onset parkinsonism, dyskinesia, and developmental delay: do not forget polyglutamine defects!

Baide-Mairena H, Coget A, Leboucq N, et al.

Annals of clinical and translational neurology 2023; (10(10)):1937-1943 doi:10.1002/acn3.51858.

Management and Treatment for Dysphagia in Neurodegenerative Disorders.

Ueha R, Cotaoco C, Kondo K, Yamasoba T

Journal of clinical medicine 2023; (13(1)) doi:10.3390/jcm13010156.

Establishing resources and increasing awareness to advance research on Dentatorubral-pallidoluysian atrophy toward a treatment: a patient organization perspective.

Prades S, Compton A, Carroll JB

Therapeutic advances in rare disease 2024; (5()):26330040241249189 doi:10.1177/26330040241249189.

Understanding dentatorubral-pallidoluysian atrophy (DRPLA) symptoms and impacts on daily life: a qualitative interview study with patients and caregivers.

Contesse MG, Woods RJ, Leffler M, et al.

Therapeutic advances in rare disease 2024; (5()):26330040241252447 doi:10.1177/26330040241252447.

Overexpanded CAG repeats in ATN1 cause an Early-Onset Case of Dentatorubral-Pallidoluysian atrophy with novel phenotypes and a literature Review of Chinese patients.

Fan S, Tang K, Chen J, et al.

Gene 2024; (931()):148881 doi:10.1016/j.gene.2024.148881.

Insights into Dentatorubral-Pallidoluysian Atrophy from a new Drosophila model of disease.

Prifti MV, Nuga O, Dulay RO, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.12.05.627083.

A DRPLA-Affected Family: Clinical Course and Autopsy Findings in a Long-Surviving Case.

Mochizuki Y, Arakawa A, Osako M, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2025; (45(4)):e70007 doi:10.1111/neup.70007.

Natural History and Progression of Dentatorubral-Pallidoluysian Atrophy (DRPLA): A Retrospective Study of 22 Patients.

Adachi H, Nishida K, Futamura N

Movement disorders clinical practice 2025; (12(8)):1097-1104 doi:10.1002/mdc3.70088.

The nuclear export signal mediates mutant atrophin-1-induced neuropathology in a mouse model of DRPLA.

Liang Y, Ning B, Wang X, et al.

Human molecular genetics 2025; (34(12)):1017-1025 doi:10.1093/hmg/ddaf048.

The analysis of schizophrenia-like psychosis in dentatorubral-pallidoluysian atrophy.

Ikegami I, Mitsuhashi Koike Y, Hayashi H, et al.

Frontiers in neurology 2025; (16()):1564856 doi:10.3389/fneur.2025.1564856.

MRI-based brain structural changes in adult-onset dentatorubral-pallidoluysian atrophy.

Li M, Chen X, Yuan R, et al.

Neuroradiology 2025; (67(11)):3107-3120 doi:10.1007/s00234-025-03624-y.

Intrathecal baclofen therapy can improve spasticity associated with infantile-onset dentatorubral-pallidoluysian atrophy: illustrative cases.

Nakagawa T, Tani N, Kagitani-Shimono K, et al.

Journal of neurosurgery. Case lessons 2025; (9(26)).

Total corpus callosotomy for an adult patient with progressive myoclonic epilepsy associated with dentatorubral-pallidoluysian atrophy: illustrative case.

Mine D, Shimogawa T, Sakai Y, et al.

Journal of neurosurgery. Case lessons 2025; (10(1)).

Disrupted Transcriptional Networks by Mutant Atrophin-1 in a Cell Culture Model of Dentatorubral-Pallidoluysian Atrophy.

Nuga O, Pourhadi M, Rausch JP, Todi SV

bioRxiv : the preprint server for biology 2025; doi:10.1101/2025.08.08.669318.

Epilepsy in dentatorubral-pallidoluysian atrophy: A systematic review and meta-analysis.

Horinouchi T, Ishibashi H, Nakagami Y, et al.

Epilepsia 2026; (67(2)):696-711 doi:10.1111/epi.18700.

Atrophin-1 antisense oligonucleotide provides robust protection from pathology in a fully humanized DRPLA model.

Smith VL, Gidi BZ, Bragg RM, et al.

Molecular therapy. Nucleic acids 2026; (37(1)):102815 doi:10.1016/j.omtn.2025.102815.

Enteral Nutrition in Idiopathic Parkinson's Disease and Atypical Parkinsonism: A Systematic Review.

Lonergan B, Ciocca M, Schrag A, Tai Y

Movement disorders clinical practice 2026; (13(9)):2104-2115 doi:10.1002/mdc3.70653.