Research & Literature

Genetic testing and counseling in the diagnosis and management of young-onset dementias.

Goldman JS

The Psychiatric clinics of North America 2015; (38(2)):295-308.

Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype.

Krause A, Mitchell C, Essop F, et al.

American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics 2015; (168(7)):573-85 doi:10.1002/ajmg.b.32332.

Huntington Disease: Molecular Diagnostics Approach.

Bastepe M, Xin W

Current protocols in human genetics 2015; (87()):9.26.1-9.26.23 doi:10.1002/0471142905.hg0926s87.

Huntington disease.

Bates GP, Dorsey R, Gusella JF, et al.

Nature reviews. Disease primers 2015; (1()):15005 doi:10.1038/nrdp.2015.5.

Human prion diseases: surgical lessons learned from iatrogenic prion transmission.

Bonda DJ, Manjila S, Mehndiratta P, et al.

Neurosurgical focus 2016; (41(1)):E10 doi:10.3171/2016.5.FOCUS15126.

Expanding the Spectrum of Genes Involved in Huntington Disease Using a Combined Clinical and Genetic Approach.

Mariani LL, Tesson C, Charles P, et al.

JAMA neurology 2016; (73(9)):1105-14 doi:10.1001/jamaneurol.2016.2215.

Motor-cognitive dual-task deficits in individuals with early-mid stage Huntington disease.

Fritz NE, Hamana K, Kelson M, et al.

Gait & posture 2016; (49()):283-289 doi:10.1016/j.gaitpost.2016.07.014.

Antipsychotic drugs in Huntington's disease.

Unti E, Mazzucchi S, Palermo G, et al.

Expert review of neurotherapeutics 2017; (17(3)):227-237 doi:10.1080/14737175.2016.1226134.

Familial Creutzfeldt-Jakob Disease: Case report and role of genetic counseling in post mortem testing.

Clift K, Guthrie K, Klee EW, et al.

Prion 2016; (10(6)):502-506 doi:10.1080/19336896.2016.1254858.

Current Pharmacological Approaches to Reduce Chorea in Huntington's Disease.

Coppen EM, Roos RA

Drugs 2017; (77(1)):29-46 doi:10.1007/s40265-016-0670-4.

Indirect tolerability comparison of Deutetrabenazine and Tetrabenazine for Huntington disease.

Claassen DO, Carroll B, De Boer LM, et al.

Journal of clinical movement disorders 2017; (4()):3 doi:10.1186/s40734-017-0051-5.

A Classification System to Guide Physical Therapy Management in Huntington Disease: A Case Series.

Fritz NE, Busse M, Jones K, et al.

Journal of neurologic physical therapy : JNPT 2017; (41(3)):156-163 doi:10.1097/NPT.0000000000000188.

Palliative Care in Neurology.

Robinson MT, Holloway RG

Mayo Clinic proceedings 2017; (92(10)):1592-1601 doi:10.1016/j.mayocp.2017.08.003.

Cognitive Dysfunction Contributes to Mobility Impairments in Huntington's Disease.

Kloos AD, Kegelmeyer DA, Fritz NE, et al.

Journal of Huntington's disease 2017; (6(4)):363-370 doi:10.3233/JHD-170279.

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.

A Novel Eight Octapeptide Repeat Insertion in PRNP Causing Prion Disease in a Danish Family.

Areškevičiūtė A, Høgh P, Bartoletti-Stella A, et al.

Journal of neuropathology and experimental neurology 2019; (78(7)):595-604 doi:10.1093/jnen/nlz037.

A Novel Splicing Mutation in the CSF1R Gene in a Family With Hereditary Diffuse Leukoencephalopathy With Axonal Spheroids.

Yang X, Huang P, Tan Y, Xiao Q

Frontiers in genetics 2019; (10()):491 doi:10.3389/fgene.2019.00491.

Advance care planning in progressive neurological diseases: lessons from ALS.

Seeber AA, Pols AJ, Hijdra A, et al.

BMC palliative care 2019; (18(1)):50 doi:10.1186/s12904-019-0433-6.

Anosognosia Is Associated With Greater Caregiver Burden and Poorer Executive Function in Huntington Disease.

Wibawa P, Zombor R, Dragovic M, et al.

Journal of geriatric psychiatry and neurology 2020; (33(1)):52-58 doi:10.1177/0891988719856697.

Gerstmann-Sträussler-Scheinker syndrome misdiagnosed as conversion disorder.

Jiang AA, Longardner K, Dickson D, Sell R

BMJ case reports 2019; (12(8)) doi:10.1136/bcr-2019-229729.

Genetic Testing in Prion Disease: Psychological Consequences of the Decisions to Know or Not to Know.

Schwartz M, Brandel JP, Babonneau ML, et al.

Frontiers in genetics 2019; (10()):895 doi:10.3389/fgene.2019.00895.

In Vitro Conversion Assays Diagnostic for Neurodegenerative Proteinopathies.

Singh S, DeMarco ML

The journal of applied laboratory medicine 2020; (5(1)):142-157 doi:10.1373/jalm.2019.029801.

Clinical recommendations to guide physical therapy practice for Huntington disease.

Quinn L, Kegelmeyer D, Kloos A, et al.

Neurology 2020; (94(5)):217-228 doi:10.1212/WNL.0000000000008887.

Management of dysphagia in Huntington's disease: a descriptive review.

Pizzorni N, Pirola F, Ciammola A, Schindler A

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(6)):1405-1417 doi:10.1007/s10072-020-04265-0.

Diagnosis of prion diseases by RT-QuIC results in improved surveillance.

Rhoads DD, Wrona A, Foutz A, et al.

Neurology 2020; (95(8)):e1017-e1026 doi:10.1212/WNL.0000000000010086.

Investigations of Huntington's Disease and Huntington's Disease-Like Syndromes in Indian Choreatic Patients.

Kaur J, Parveen S, Shamim U, et al.

Journal of Huntington's disease 2020; (9(3)):283-289 doi:10.3233/JHD-200398.

C9orf72 Hexanucleotide Repeat in Huntington-Like Patients: Systematic Review and Meta-Analysis.

Alva-Diaz C, Alarcon-Ruiz CA, Pacheco-Barrios K, et al.

Frontiers in genetics 2020; (11()):551780 doi:10.3389/fgene.2020.551780.

Epilepsy and prion diseases: A narrative review.

Mbizvo GK, Ziso B, Larner AJ

Epilepsy & behavior : E&B 2021; (115()):107630 doi:10.1016/j.yebeh.2020.107630.

[Inherited Creutzfeldt-Jakob disease with four-octapeptide repeat insertional mutation in the prion gene].

Douzono M, Nobuhara Y, Maruta K, et al.

Rinsho shinkeigaku = Clinical neurology 2021; (61(5)):314-318 doi:10.5692/clinicalneurol.cn-001558.

Early advance care planning in amyotrophic lateral sclerosis patients: results of a systematic intervention by a palliative care team in a multidisciplinary management programme - a 4-year cohort study.

Sukockienė E, Iancu Ferfoglia R, Boegli M, et al.

Swiss medical weekly 2021; (151()):w20484.

Clinical predictors and neural correlates for compromised swallowing safety in Huntington disease.

Schumann-Werner B, Dogan I, Mirzazade S, et al.

European journal of neurology 2021; (28(9)):2855-2862 doi:10.1111/ene.14953.

Swallowing Function Evaluation in a Patient with Gerstmann-Sträussler-Scheinker Disease with Pro105Leu: A Case Report.

Nakane A, Hasegawa S, Ishii M, et al.

International journal of environmental research and public health 2021; (18(18)) doi:10.3390/ijerph18189734.

Characterization of Prion Disease Associated with a Two-Octapeptide Repeat Insertion.

Brennecke N, Cali I, Mok TH, et al.

Viruses 2021; (13(9)) doi:10.3390/v13091794.

An MDS Evidence-Based Review on Treatments for Huntington's Disease.

Ferreira JJ, Rodrigues FB, Duarte GS, et al.

Movement disorders : official journal of the Movement Disorder Society 2022; (37(1)):25-35 doi:10.1002/mds.28855.

Measuring the functional impact of cognitive impairment in Huntington's disease.

Horta-Barba A, Martínez-Horta S, Pérez-Pérez J, et al.

Journal of neurology 2022; (269(7)):3541-3549 doi:10.1007/s00415-021-10955-2.

Improving Mood and Cognitive Symptoms in Huntington's Disease With Cariprazine Treatment.

Molnar MJ, Molnar V, Fedor M, et al.

Frontiers in psychiatry 2021; (12()):825532 doi:10.3389/fpsyt.2021.825532.

Diagnostic accuracy of cerebrospinal fluid biomarkers in genetic prion diseases.

Schmitz M, Villar-Piqué A, Hermann P, et al.

Brain : a journal of neurology 2022; (145(2)):700-712 doi:10.1093/brain/awab350.

Dysphagia, Fear of Choking and Preventive Measures in Patients with Huntington's Disease: The Perspectives of Patients and Caregivers in Long-Term Care.

Kalkers K, Schols JMGA, van Zwet EW, Roos RAC

The journal of nutrition, health & aging 2022; (26(4)):332-338 doi:10.1007/s12603-022-1743-6.

Genetic counseling for prion disease: Updates and best practices.

Goldman JS, Vallabh SM

Genetics in medicine : official journal of the American College of Medical Genetics 2022; (24(10)):1993-2003 doi:10.1016/j.gim.2022.06.003.

Genetic aspects of human prion diseases.

Appleby BS, Shetty S, Elkasaby M

Frontiers in neurology 2022; (13()):1003056 doi:10.3389/fneur.2022.1003056.

Home-Based Exercise to Improve Motor Functions, Cognitive Functions, and Quality of Life in People with Huntington's Disease: A Systematic Review and Meta-Analysis.

Al-Wardat M, Schirinzi T, Hadoush H, et al.

International journal of environmental research and public health 2022; (19(22)) doi:10.3390/ijerph192214915.

Primary Palliative Care in Huntington's Disease.

Harrison MB, Morrissey DL, Dalrymple WA, et al.

Movement disorders clinical practice 2023; (10(1)):55-63 doi:10.1002/mdc3.13589.

Safety and efficacy of valbenazine for the treatment of chorea associated with Huntington's disease (KINECT-HD): a phase 3, randomised, double-blind, placebo-controlled trial.

Furr Stimming E, Claassen DO, Kayson E, et al.

The Lancet. Neurology 2023; (22(6)):494-504 doi:10.1016/S1474-4422(23)00127-8.

Genetic screening for Huntington disease phenocopies in Sweden: A tertiary center case series focused on short tandem repeat (STR) disorders.

Paucar M, Laffita-Mesa J, Niemelä V, et al.

Journal of the neurological sciences 2023; (451()):120707 doi:10.1016/j.jns.2023.120707.

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP).

Van den Broecke A, Decruyenaere A, Schuermans N, et al.

Journal of neurology 2024; (271(1)):263-273 doi:10.1007/s00415-023-11968-9.

Human prion diseases and the prion protein - what is the current state of knowledge?

Nafe R, Arendt CT, Hattingen E

Translational neuroscience 2023; (14(1)):20220315 doi:10.1515/tnsci-2022-0315.

Variably protease-sensitive prionopathy with methionine homozygosity at codon 129 in the prion protein gene.

Clemmensen FK, Areskeviciute A, Lund EL, Roos P

BMJ case reports 2024; (17(2)) doi:10.1136/bcr-2023-258199.

Improving the Accuracy of Code Status Documentation in Home Care.

Benedict J

Home healthcare now 2024; (42(2)):84-89 doi:10.1097/NHH.0000000000001239.

Optimizing Corneal Transplant Safety: The Impact of Mandatory Prion Protein Testing on Iatrogenic Creutzfeldt-Jakob Disease Prevention in the Czech Republic.

Netuková M, Okál M, Studený P, et al.

Cornea 2024; (44(8)):1022-1025 doi:10.1097/ICO.0000000000003692.

Fatal familial insomnia: Reporting a case of the rare nightmare.

Hogue E, Weinberg D, Palecek E

Journal of postgraduate medicine 2024; (70(4)):252-254 doi:10.4103/jpgm.jpgm_582_24.

Antidopaminergic medications in Huntington's disease.

Tan AM, Geva M, Goldberg YP, et al.

Journal of Huntington's disease 2025; (14(1)):16-29 doi:10.1177/18796397241304312.

Huntington's disease caregivers: A qualitative exploration of caregivers experience.

Carney S, Pender N, Rogers E

Journal of health psychology 2026; (31(1)):82-96 doi:10.1177/13591053251328934.

A novel 8-octapeptide repeat insertion in PRNP causing Huntington disease-like 1 in a Chinese family: a case report and literature review.

Ni J, Zheng F, Yu L, et al.

Journal of medical genetics 2025; (62(10)):647-652 doi:10.1136/jmg-2024-110520.

Gerstmann-Sträussler-Scheinker syndrome neuropathology in a Creutzfeldt-Jakob disease-like phenotype patient caused by a novel 6-OPRI sequence in the PRNP gene.

Sýkora M, Baranová S, Parobková E, et al.

Revue neurologique 2026; (182(1-2)):97-105 doi:10.1016/j.neurol.2025.11.007.

Caregiver Burden in Prion Disease.

Kovacevich A, Martin JT, Glisic K, et al.

Dementia and geriatric cognitive disorders extra 2026; (16(1)):4-10 doi:10.1159/000549584.

Non-Huntington's disease chorea: an expanding universe with acquired causes.

Cardoso F, Maia D, Maciel R, et al.

Brain : a journal of neurology 2026; (149(6)):1860-1873 doi:10.1093/brain/awag038.

Genetic Creutzfeldt-Jakob disease associated with 5-octapeptide repeat insertion in the PRNP gene: case and pedigree report and literature review.

Geng Q, Liu R, Xia J, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2026; (47(6)).

A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel.

Shir D, Bregman N, David AB, et al.

European journal of neurology 2026; (33(6)):e70649 doi:10.1111/ene.70649.

Multidisciplinary recommendations for palliative and supportive care in Creutzfeldt-Jakob disease and related disorders.

Ng M, Grundy A, Appleby B, et al.

Age and ageing 2026; (55(7)) doi:10.1093/ageing/afag206.

A brief acceptance and commitment therapy intervention for individuals at risk of neurodegenerative disease: A translational study in inherited prion disease.

Brien R, Dindo L, Williams R, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2026; (23(6)):e01079 doi:10.1016/j.neurot.2026.e01079.