Research & Literature

Gluten-related disorders: gluten ataxia.

Hadjivassiliou M, Sanders DD, Aeschlimann DP

Digestive diseases (Basel, Switzerland) 2015; (33(2)):264-268 doi:10.1159/000369509.

Treatment situation of male hypogonadotropic hypogonadism in pediatrics and proposal of testosterone and gonadotropins replacement therapy protocols.

Sato N, Hasegawa T, Hasegawa Y, et al.

Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2015; (24(2)):37-49 doi:10.1297/cpe.24.37.

Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene.

Wiethoff S, Bettencourt C, Paudel R, et al.

Cerebellum (London, England) 2017; (16(1)):262-267 doi:10.1007/s12311-016-0769-x.

The effect of a task-specific locomotor training strategy on gait stability in patients with cerebellar disease: a feasibility study.

Im SJ, Kim YH, Kim KH, et al.

Disability and rehabilitation 2017; (39(10)):1002-1008 doi:10.1080/09638288.2016.1177124.

Boucher Neuhäuser Syndrome - A rare cause of inherited hypogonadotropic hypogonadism. A case of two adult siblings with two novel mutations in PNPLA6.

Langdahl JH, Frederiksen AL, Nguyen N, et al.

European journal of medical genetics 2017; (60(2)):105-109 doi:10.1016/j.ejmg.2016.11.003.

Can vitamin B12 deficiency manifest with acute posterolateral or posterior cord syndrome?

Pandey S, V Holla V, Rizvi I, et al.

Spinal cord series and cases 2016; (2()):16006 doi:10.1038/scsandc.2016.6.

Switch to restoration therapy in a testosterone treated central hypogonadism with erythrocytosis.

Cangiano B, Cacciatore C, Persani L, Bonomi M

Endocrinology, diabetes & metabolism case reports 2017; (2017()) doi:10.1530/EDM-17-0055.

Effect of gluten-free diet on cerebellar MR spectroscopy in gluten ataxia.

Hadjivassiliou M, Grünewald RA, Sanders DS, et al.

Neurology 2017; (89(7)):705-709 doi:10.1212/WNL.0000000000004237.

A Case of Male Osteoporosis: A 37-Year-Old Man with Multiple Vertebral Compression Fractures.

Radi S, Karaplis AC

Case reports in endocrinology 2017; (2017()):6328524 doi:10.1155/2017/6328524.

Reproductive endocrine phenotypes relating to CHD7 mutations in humans.

Balasubramanian R, Crowley WF

American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(4)):507-515 doi:10.1002/ajmg.c.31585.

Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias.

Teive HAG, Camargo CHF, Sato MT, et al.

Cerebellum (London, England) 2018; (17(3)):380-385 doi:10.1007/s12311-017-0909-y.

A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome.

Zheng R, Zhao Y, Wu J, et al.

Molecular medicine reports 2018; (18(1)):261-267 doi:10.3892/mmr.2018.8955.

Endocrine disorders and the cerebellum: from neurodevelopmental injury to late-onset ataxia.

Manto M, Hampe CS

Handbook of clinical neurology 2018; (155()):353-368 doi:10.1016/B978-0-444-64189-2.00023-8.

CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME.

DeNaro BB, Dhrami-Gavazi E, Rubaltelli DM, et al.

Retinal cases & brief reports 2021; (15(2)):179-184 doi:10.1097/ICB.0000000000000769.

Management of ovulation induction and intrauterine insemination in infertile patients with hypogonadotropic hypogonadism.

Huseyin K, Berk B, Tolga K, et al.

Journal of gynecology obstetrics and human reproduction 2019; (48(10)):833-838 doi:10.1016/j.jogoh.2019.03.027.

Acute cerebellar ataxia: differential diagnosis and clinical approach.

Pedroso JL, Vale TC, Braga-Neto P, et al.

Arquivos de neuro-psiquiatria 2019; (77(3)):184-193 doi:10.1590/0004-282X20190020.

Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia.

O'Neil E, Serrano L, Scoles D, et al.

Ophthalmic genetics 2019; (40(3)):267-275 doi:10.1080/13816810.2019.1605392.

Metabolic Disorders and Male Hypogonadotropic Hypogonadism.

Pivonello R, Menafra D, Riccio E, et al.

Frontiers in endocrinology 2019; (10()):345 doi:10.3389/fendo.2019.00345.

Disease-Associated PNPLA6 Mutations Maintain Partial Functions When Analyzed in Drosophila.

Sunderhaus ER, Law AD, Kretzschmar D

Frontiers in neuroscience 2019; (13()):1207 doi:10.3389/fnins.2019.01207.

Management of Hypopituitarism.

Alexandraki KI, Grossman A

Journal of clinical medicine 2019; (8(12)) doi:10.3390/jcm8122153.

Characterization of the Interaction of Neuropathy Target Esterase with the Endoplasmic Reticulum and Lipid Droplets.

Chang P, He L, Wang Y, et al.

Biomolecules 2019; (9(12)) doi:10.3390/biom9120848.

Functional Difficulties of Patients Seeking Low Vision Services in South India.

Ehrlich JR, Flora HJ, Stagg BC, et al.

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.) 2020; (9(5)):470-475 doi:10.1097/APO.0000000000000285.

The Impact of Visual Field Loss on Driving Skills: A Systematic Narrative Review.

Patterson G, Howard C, Hepworth L, Rowe F

The British and Irish orthoptic journal 2019; (15(1)):53-63 doi:10.22599/bioj.129.

Novel variants in PNPLA6 causing syndromic retinal dystrophy.

Wu S, Sun Z, Zhu T, et al.

Experimental eye research 2021; (202()):108327 doi:10.1016/j.exer.2020.108327.

A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.

Emekli AS, Samanci B, Şimşir G, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(4)):1535-1539 doi:10.1007/s10072-020-04869-6.

Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene.

Doğan M, Eröz R, Öztürk E

Ophthalmic genetics 2021; (42(3)):276-282 doi:10.1080/13816810.2021.1894461.

Neuropsychological assessment of Boucher-Neuhäuser syndrome: A case report.

Merolla S, Borella M, Bassi F, et al.

The Clinical neuropsychologist 2022; (36(8)):2370-2378 doi:10.1080/13854046.2021.1965219.

Megaloblastic wobbliness: A reversible neurological condition.

Panda PK, Bolia R, Shrivastava Y, et al.

Clinical nutrition ESPEN 2021; (45()):511-513 doi:10.1016/j.clnesp.2021.06.019.

Movement Disorders Associated with Hypogonadism.

Gonzalez-Latapi P, Sousa M, Lang AE

Movement disorders clinical practice 2021; (8(7)):997-1011 doi:10.1002/mdc3.13308.

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature.

Nanetti L, Di Bella D, Magri S, et al.

Frontiers in neurology 2021; (12()):793547 doi:10.3389/fneur.2021.793547.

Functional Outcomes Associated With Independence in Walking Among People With Hereditary Ataxias: An Exploratory Cross-sectional Study.

Giangiardi VF, Perracini MR, da Silva ML, et al.

Physical therapy 2022; (102(4)) doi:10.1093/ptj/pzac006.

Identification of Novel Compound Heterozygous Variants of the PNPLA6 Gene in Boucher-Neuhäuser Syndrome.

He J, Liu X, Liu L, et al.

Frontiers in genetics 2022; (13()):810537 doi:10.3389/fgene.2022.810537.

Accidental Fall Death in McLean County: Examining Variables in Community-Dwelling Older Adults.

Shropshire M, Hovey S, Dyck MJ, et al.

Journal of gerontological nursing 2022; (48(6)):26-32 doi:10.3928/00989134-20220506-01.

The Reproductive Outcome of Women with Hypogonadotropic Hypogonadism in IVF.

Zhang CM, Zhang H, Yang R, et al.

Frontiers in endocrinology 2022; (13()):850126 doi:10.3389/fendo.2022.850126.

Neurodegenerative Cerebellar Ataxia.

Rosenthal LS

Continuum (Minneapolis, Minn.) 2022; (28(5)):1409-1434 doi:10.1212/CON.0000000000001180.

Ataxias: Hereditary, Acquired, and Reversible Etiologies.

Lin CR, Kuo SH

Seminars in neurology 2023; (43(1)):48-64 doi:10.1055/s-0043-1763511.

PNPLA6 disorders: what's in a name?

Liu J, Hufnagel RB

Ophthalmic genetics 2023; (44(6)):530-538 doi:10.1080/13816810.2023.2254830.

Patient-reported vision impairment in low luminance predicts multiple falls.

Terheyden JH, Gerhards J, Ost RAD, et al.

BMC geriatrics 2023; (23(1)):583 doi:10.1186/s12877-023-04317-y.

BOUCHER-NEUHAUSER SYNDROME: CHORIORETINAL CHANGES IN A SINGLE CASE OVER TIME.

Adeghate JO, Sherman J, Bass S, et al.

Retinal cases & brief reports 2025; (19(3)):366-371 doi:10.1097/ICB.0000000000001556.

Two case reports of a novel missense mutation in the PNPLA6 gene in two siblings with chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia.

Liampas A, Nicolaou P, Votsi C, et al.

Molecular biology reports 2024; (51(1)):590 doi:10.1007/s11033-024-09515-4.

Hypopituitarism.

Fleseriu M, Christ-Crain M, Langlois F, et al.

Lancet (London, England) 2024; (403(10444)):2632-2648 doi:10.1016/S0140-6736(24)00342-8.

Evaluating Sperm Recovery Time and Efficacy of Monotherapy vs. Combination Therapies in Men with Congenital Hypogonadotropic Hypogonadism: A Systematic Review and Meta-Analysis.

Pozzi E, Ila V, Petrella F, et al.

The world journal of men's health 2025; (43(3)):552-562 doi:10.5534/wjmh.240095.

Hypogonadotropic Hypogonadism as First Presentation of the Severe Neuroendocrine Disorder Caused by RNF216.

Rochtus A, Asscherickx W, Timmers M, et al.

JCEM case reports 2024; (2(11)):luae195 doi:10.1210/jcemcr/luae195.

Goal-Directed Rehabilitation Versus Standard Care for Individuals with Hereditary Cerebellar Ataxia: A Multicenter, Single-Blind, Randomized Controlled Superiority Trial.

Milne SC, Roberts M, Williams S, et al.

Annals of neurology 2025; (97(3)):409-424 doi:10.1002/ana.27130.

Managing Retinitis Pigmentosa: A Literature Review of Current Non-Surgical Approaches.

Colombo L, Baldesi J, Martella S, et al.

Journal of clinical medicine 2025; (14(2)) doi:10.3390/jcm14020330.

Effects of physiotherapy on degenerative cerebellar ataxia: a systematic review and meta-analysis.

Matsugi A, Bando K, Kondo Y, et al.

Frontiers in neurology 2024; (15()):1491142 doi:10.3389/fneur.2024.1491142.

Home Training for Cerebellar Ataxias: A Randomized Clinical Trial.

Barbuto S, Lee S, Stein J, et al.

JAMA neurology 2025; (82(11)):1162-1170 doi:10.1001/jamaneurol.2025.3421.

Novel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.

Xiao P, Gu Y, Qi X, et al.

Frontiers in genetics 2025; (16()):1693876 doi:10.3389/fgene.2025.1693876.

Novel PNPLA6 Variants: Hypogonadotropic Hypogonadism, Pituitary Hypoplasia, Anosmia, and Cerebellar Atrophy in Siblings.

Hussain MA, Kumar V, Chapla A, et al.

JCEM case reports 2026; (4(1)):luaf286 doi:10.1210/jcemcr/luaf286.

Fall Risk Assessments for Individuals with Visual Impairment: A Scoping Review of Questionnaire-Based Tools.

Arogbokun S, Owusu S, Wheeler L, Barstow B

Occupational therapy in health care 2026; 1-25 doi:10.1080/07380577.2026.2623233.

Fertility Outcomes in Men with Nonobstructive Azoospermia Due to Hypogonadotropic Hypogonadism After Gonadotropin Therapy.

Zachariou A, Zikopoulos A, Markou E, et al.

Journal of clinical medicine 2026; (15(3)) doi:10.3390/jcm15031204.

Homozygous PNPLA6 Mutation (p.Arg1183Trp) Associated With Isolated Cerebellar Ataxia: A Familial Case Report.

Alawadhi A, Almarzooqi A, Khan M, Alrukn S

Cureus 2026; (18(4)):e107039 doi:10.7759/cureus.107039.

Splenial corpus callosum lesions in Boucher-Neuhäuser syndrome: a case series and comprehensive literature review with exploratory analysis of disease duration.

Morita Y, Nakaya M, Kurokawa R, et al.

Neuroradiology 2026; doi:10.1007/s00234-026-04048-y.

PNPLA6-related syndromic retinal dystrophy: A genetically confirmed case of Boucher-Neuhauser syndrome from the Kingdom of Bahrain.

Almohsen MA, Alasal AE, Jamal HF

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society 2026; (40(3)):314-317 doi:10.4103/sjopt.sjopt_223_24.