Research & Literature

Donepezil for dementia with Lewy bodies: a randomized, placebo-controlled, confirmatory phase III trial.

Ikeda M, Mori E, Matsuo K, et al.

Alzheimer's research & therapy 2015; (7(1)):4 doi:10.1186/s13195-014-0083-0.

An autopsy case of neuronal intermediate filament inclusion disease with regard to immunophenotypic and topographical analysis of the neuronal inclusions.

Inoue K, Fujimura H, Ueda K, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2015; (35(6)):545-52 doi:10.1111/neup.12213.

Cholinesterase Inhibitors for Lewy Body Disorders: A Meta-Analysis.

Matsunaga S, Kishi T, Yasue I, Iwata N

The international journal of neuropsychopharmacology 2015; (19(2)).

Parkinsonian-Pyramidal syndromes: A systematic review.

Tranchant C, Koob M, Anheim M

Parkinsonism & related disorders 2017; (39()):4-16 doi:10.1016/j.parkreldis.2017.02.025.

Clinical assessment of dysphagia in neurodegeneration (CADN): development, validity and reliability of a bedside tool for dysphagia assessment.

Vogel AP, Rommel N, Sauer C, et al.

Journal of neurology 2017; (264(6)):1107-1117 doi:10.1007/s00415-017-8499-7.

Are dementia with Lewy bodies and Parkinson's disease dementia the same disease?

Jellinger KA, Korczyn AD

BMC medicine 2018; (16(1)):34 doi:10.1186/s12916-018-1016-8.

Therapeutic Management of the Overlapping Syndromes of Atypical Parkinsonism.

Giagkou N, Stamelou M

CNS drugs 2018; (32(9)):827-837 doi:10.1007/s40263-018-0551-3.

Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Somashekar PH, Girisha KM, Nampoothiri S, et al.

Clinical genetics 2019; (95(3)):398-402 doi:10.1111/cge.13468.

Lewy Body Dementias.

Armstrong MJ

Continuum (Minneapolis, Minn.) 2019; (25(1)):128-146 doi:10.1212/CON.0000000000000685.

Autonomic Dysfunction in α-Synucleinopathies.

Mendoza-Velásquez JJ, Flores-Vázquez JF, Barrón-Velázquez E, et al.

Frontiers in neurology 2019; (10()):363 doi:10.3389/fneur.2019.00363.

Dystonia in atypical parkinsonian disorders.

Marsili L, Bologna M, Kojovic M, et al.

Parkinsonism & related disorders 2019; (66()):25-33 doi:10.1016/j.parkreldis.2019.07.030.

New evidence on the management of Lewy body dementia.

Taylor JP, McKeith IG, Burn DJ, et al.

The Lancet. Neurology 2020; (19(2)):157-169 doi:10.1016/S1474-4422(19)30153-X.

An autopsy case report of neuronal intermediate filament inclusion disease presenting with predominantly upper motor neuron features.

Murakami A, Nakamura M, Nakamura Y, et al.

Neuropathology : official journal of the Japanese Society of Neuropathology 2021; (41(5)):357-365 doi:10.1111/neup.12741.

Neuronal intermediate filament inclusion disease may be incorrectly classified as a subtype of FTLD-FUS.

Bieniek KF, Josephs KA, Lin WL, Dickson DW

Free neuropathology 2020; (1()):9 doi:10.17879/freeneuropathology-2020-2639.

"Parkinson's disease" on the way to progressive supranuclear palsy: a review on PSP-parkinsonism.

Necpál J, Borsek M, Jeleňová B

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(12)):4927-4936 doi:10.1007/s10072-021-05601-8.

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.

Predictors of malnutrition risk in neurodegenerative diseases: The role of swallowing function.

Pizzorni N, Ciammola A, Casazza G, et al.

European journal of neurology 2022; (29(8)):2493-2498 doi:10.1111/ene.15345.

Cognitive Syndromes Associated With Movement Disorders.

Goldman JG, Holden SK

Continuum (Minneapolis, Minn.) 2022; (28(3)):726-749 doi:10.1212/CON.0000000000001134.

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V, Byrne AB, Feng BJ, et al.

American journal of human genetics 2022; (109(12)):2163-2177 doi:10.1016/j.ajhg.2022.10.013.

Calculating variant penetrance from family history of disease and average family size in population-scale data.

Spargo TP, Opie-Martin S, Bowles H, et al.

Genome medicine 2022; (14(1)):141 doi:10.1186/s13073-022-01142-7.

A Novel CDH1 Variant Identified in a Chinese Family with Blepharocheilodontic Syndrome.

Lin B, Liu Y, Su L, et al.

Diagnostics (Basel, Switzerland) 2022; (12(12)) doi:10.3390/diagnostics12122936.

Diffuse argyrophilic grain disease with TDP-43 proteinopathy and neuronal intermediate filament inclusion disease: FTLD with mixed tau, TDP-43 and FUS pathologies.

Koga S, Murakami A, Soto-Beasley AI, et al.

Acta neuropathologica communications 2023; (11(1)):109 doi:10.1186/s40478-023-01611-z.

Prevalence and impact of neuropsychiatric symptoms in normal aging and neurodegenerative syndromes: A population-based study from Latin America.

Rodriguez Salgado AM, Acosta I, Kim DJ, et al.

Alzheimer's & dementia : the journal of the Alzheimer's Association 2023; (19(12)):5730-5741 doi:10.1002/alz.13384.

Prenatal diagnosis of bilateral anophthalmia: Identifying de novo SOX2 variant.

Kidd J, Patberg E, McGath M, et al.

Prenatal diagnosis 2023; (43(9)):1251-1254 doi:10.1002/pd.6416.

Impaired skeletal muscle health in Parkinsonian syndromes: clinical implications, mechanisms and potential treatments.

Murphy KT, Lynch GS

Journal of cachexia, sarcopenia and muscle 2023; (14(5)):1987-2002 doi:10.1002/jcsm.13312.

The psychosocial impact of childhood dementia on children and their parents: a systematic review.

Nevin SM, McGill BC, Kelada L, et al.

Orphanet journal of rare diseases 2023; (18(1)):277 doi:10.1186/s13023-023-02859-3.

Vocal Fold Motion Impairment in Neurodegenerative Diseases.

Ueha R, Miura C, Matsumoto N, et al.

Journal of clinical medicine 2024; (13(9)) doi:10.3390/jcm13092507.

A mutation in the PRKAR1B gene drives pathological mechanisms of neurodegeneration across species.

Benjamin-Zukerman T, Shimon G, Gaine ME, et al.

Brain : a journal of neurology 2024; (147(11)):3890-3905 doi:10.1093/brain/awae154.

Patterns of glucose hypometabolism can help differentiate FTLD-FET from other types of FTLD.

Garcia-Guaqueta DP, Ghayal NB, Lowe VJ, et al.

Journal of neurology 2024; (271(9)):6264-6273 doi:10.1007/s00415-024-12583-y.

Determinants of care partner burden in atypical Parkinsonian syndromes: A retrospective, multi-center analysis.

Shurer J, Ivancic M, Nesspor V, et al.

Clinical parkinsonism & related disorders 2024; (11()):100266 doi:10.1016/j.prdoa.2024.100266.

Interoception in Parkinson's disease: A narrative review and framework for translational research.

Longardner K, Mabry SA, Chen G, et al.

Autonomic neuroscience : basic & clinical 2025; (259()):103258 doi:10.1016/j.autneu.2025.103258.

Allosteric modulation of protein kinase A in individuals affected by NLPD-PKA, a neurodegenerative disease in which the PRKAR1B L50R variant is expressed.

Benjamin-Zukerman T, Pane V, Safadi-Safa R, et al.

The FEBS journal 2025; (292(18)):4808-4832 doi:10.1111/febs.70098.

Integrating tele-palliative care for atypical Parkinsonian disorders: Lessons learned from a pilot program.

Afshari M, Kang K, Butala AA, et al.

Clinical parkinsonism & related disorders 2025; (12()):100352 doi:10.1016/j.prdoa.2025.100352.

Aberrant phase separation of two PKA RIβ neurological disorder mutants leads to mechanistically distinct signaling deficits.

Pool EH, Glebov-McCloud A, Lee HN, et al.

Cell reports 2025; (44(6)):115797 doi:10.1016/j.celrep.2025.115797.

Protein kinase A: a quirky prototype.

Gold MG

The FEBS journal 2025; (292(18)):4800-4803 doi:10.1111/febs.70176.

Expansion of the Phenotypic and Genotypic Spectrum for PRKAR1B -Related Marbach-Schaaf Neurodevelopmental Syndrome: A Case Series.

Burkart S, Guzeloglu T, Soares AR, et al.

Clinical genetics 2026; (109(4)):679-696 doi:10.1111/cge.70094.

Kufor-Rakeb syndrome: a cohort-based clinical, imaging and genetic profile.

Roy S, Mahale RR

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(1)):106.

An overview of the current management and emerging therapies of Multiple system atrophy.

Sorrentino C, Baldelli L, Calandra-Buonaura G, Pellecchia MT

Expert review of neurotherapeutics 2026; (26(3)):279-300 doi:10.1080/14737175.2025.2605711.

Caregiver Burden and Support for People with Neurological Disorders: Findings from a Polish Cross-Sectional Study.

Pasek M, Strzesak Z, Goździalska A, Jochymek M

Journal of clinical medicine 2026; (15(2)) doi:10.3390/jcm15020674.

Distinct TAF15 amyloid filament folds define multiple subtypes of FTLD-TAF15.

Tetter S, Varghese NR, Murzin AG, et al.

bioRxiv : the preprint server for biology 2026; doi:10.64898/2026.01.12.698957.

Cytoskeltal intermediate filaments in Tau pathology and neurodegeneration.

Chinnathambi S, Malik S

Advances in protein chemistry and structural biology 2026; (150()):351-376 doi:10.1016/bs.apcsb.2025.10.028.

Strategic consensus on the clinical translation of advanced therapies in paediatric rare neurological disorders.

Lim NY, Meagher CE, Bye A, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2026; (23(3)):e00921 doi:10.1016/j.neurot.2026.e00921.

Clinical Trajectories of Neurodegenerative Diseases in Older Adults: A Three-Sphere Framework for Precision Geriatric Neurology.

Testa C, Palmese F, Boni S, et al.

Life (Basel, Switzerland) 2026; (16(5)) doi:10.3390/life16050827.

The AIMS Clinic Model: A Retrospective Analysis of Interdisciplinary Movement-Neuropalliative Care for People With Late-Stage Parkinsonism.

Husain M, Hong A, Tharp ME, et al.

Neurology. Clinical practice 2026; (16(5)):e200652 doi:10.1212/CPJ.0000000000200652.

A novel missense mutation in tropomyosin 1 gene associated with hypertrophic cardiomyopathy.

Nguyen KNT, Nguyen NT, Nguyen MTT, et al.

Journal, genetic engineering & biotechnology 2026; (24(3)):100753 doi:10.1016/j.jgeb.2026.100753.