Research & Literature

210th ENMC International Workshop: Research and clinical management of patients with spinal and bulbar muscular atrophy, 27-29 March, 2015, Naarden, The Netherlands.

Pennuto M, Greensmith L, Pradat PF, et al.

Neuromuscular disorders : NMD 2015; (25(10)):802-12.

Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.

Querin G, Bertolin C, Da Re E, et al.

Journal of neurology, neurosurgery, and psychiatry 2016; (87(8)):810-6 doi:10.1136/jnnp-2015-311305.

Spinal and Bulbar Muscular Atrophy.

Grunseich C, Fischbeck KH

Neurologic clinics 2015; (33(4)):847-54.

Spinal and Bulbar Muscular Atrophy Overview.

Fischbeck KH

Journal of molecular neuroscience : MN 2016; (58(3)):317-20 doi:10.1007/s12031-015-0674-7.

Differences in F-Wave Characteristics between Spinobulbar Muscular Atrophy and Amyotrophic Lateral Sclerosis.

Fang J, Cui L, Liu M, et al.

Frontiers in aging neuroscience 2016; (8()):50 doi:10.3389/fnagi.2016.00050.

Validation of the Italian version of the SBMA Functional Rating Scale as outcome measure.

Querin G, DaRe E, Martinelli I, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2016; (37(11)):1815-1821 doi:10.1007/s10072-016-2666-y.

[Clinical features of a genetically identified spinal and 
bulbar muscular atrophy pedigree].

Wang Z, Chen Q, Li Q, Bi F

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences 2016; (41(10)):1101-1105 doi:10.11817/j.issn.1672-7347.2016.10.015.

Correlation of insulin resistance and motor function in spinal and bulbar muscular atrophy.

Nakatsuji H, Araki A, Hashizume A, et al.

Journal of neurology 2017; (264(5)):839-847 doi:10.1007/s00415-017-8405-3.

Long-term treatment with leuprorelin for spinal and bulbar muscular atrophy: natural history-controlled study.

Hashizume A, Katsuno M, Suzuki K, et al.

Journal of neurology, neurosurgery, and psychiatry 2017; (88(12)):1026-1032 doi:10.1136/jnnp-2017-316015.

Swallowing markers in spinal and bulbar muscular atrophy.

Banno H, Katsuno M, Suzuki K, et al.

Annals of clinical and translational neurology 2017; (4(8)):534-543 doi:10.1002/acn3.425.

Correlation between the CAG repeat size and electrophysiological findings in patients with spinal and bulbar muscular atrophy.

Kim H, Lim YM, Lee EJ, et al.

Muscle & nerve 2018; (57(4)):683-686 doi:10.1002/mus.25977.

Quantitative Assessment of Swallowing Dysfunction in Patients with Spinal and Bulbar Muscular Atrophy.

Hashizume A, Banno H, Katsuno M, et al.

Internal medicine (Tokyo, Japan) 2017; (56(23)):3159-3165 doi:10.2169/internalmedicine.8799-16.

Nonalcoholic fatty liver disease in spinal and bulbar muscular atrophy.

Guber RD, Takyar V, Kokkinis A, et al.

Neurology 2017; (89(24)):2481-2490 doi:10.1212/WNL.0000000000004748.

X-linked spinal and bulbar muscular atrophy (Kennedy's disease): the first case described in the Brazilian Amazon.

Alves CN, Braga TKK, Somensi DN, et al.

Einstein (Sao Paulo, Brazil) 2018; (16(2)):eRC4011 doi:10.1590/S1679-45082018RC4011.

Clinical manifestations and AR gene mutations in Kennedy's disease.

Liu X, Zhu M, Li X, Tang J

Functional & integrative genomics 2019; (19(3)):533-539 doi:10.1007/s10142-018-0651-7.

Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of italian patients with spinal-bulbar muscular atrophy.

Francini-Pesenti F, Querin G, Martini C, et al.

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology 2018; (37(3)):204-209.

Nasometric Scores in spinal and bulbar muscular atrophy - Effects of palatal lift prosthesis on dysarthria and dysphagia.

Tanaka S, Hashizume A, Hijikata Y, et al.

Journal of the neurological sciences 2019; (407()):116503 doi:10.1016/j.jns.2019.116503.

The French national protocol for Kennedy's disease (SBMA): consensus diagnostic and management recommendations.

Pradat PF, Bernard E, Corcia P, et al.

Orphanet journal of rare diseases 2020; (15(1)):90 doi:10.1186/s13023-020-01366-z.

Metabolic alterations in spinal and bulbar muscular atrophy.

Francini-Pesenti F, Vitturi N, Tresso S, Sorarù G

Revue neurologique 2020; (176(10)):780-787 doi:10.1016/j.neurol.2020.03.020.

Molecular pathogenesis of spinal bulbar muscular atrophy (Kennedy's disease) and avenues for treatment.

Grunseich C, Fischbeck KH

Current opinion in neurology 2020; (33(5)):629-634 doi:10.1097/WCO.0000000000000856.

A Crucial Role for the Protein Quality Control System in Motor Neuron Diseases.

Cristofani R, Crippa V, Cicardi ME, et al.

Frontiers in aging neuroscience 2020; (12()):191 doi:10.3389/fnagi.2020.00191.

Kennedy's disease: an under-recognized motor neuron disorder.

Malek EG, Salameh JS, Makki A

Acta neurologica Belgica 2020; (120(6)):1289-1295 doi:10.1007/s13760-020-01472-6.

Clinical Phenotyping and Biomarkers in Spinal and Bulbar Muscular Atrophy.

Millere E, Rots D, Glazere I, et al.

Frontiers in neurology 2020; (11()):586610 doi:10.3389/fneur.2020.586610.

Effect of leuprorelin in bulbar function of spinal and bulbar muscular atrophy patients: observational study for 1 year.

Kang MG, Gwak DW, Cho HJ, et al.

Journal of neurology 2021; (268(9)):3344-3351 doi:10.1007/s00415-021-10503-y.

Exercise Intervention Leads to Functional Improvement in a Patient with Spinal and Bulbar Muscular Atrophy.

Compo J, Joseph J, Shieh V, et al.

Journal of rehabilitation medicine. Clinical communications 2020; (3()):1000041 doi:10.2340/20030711-1000041.

Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.

Müller KI, Nilssen Ø, Nebuchenykh M, et al.

Neuromuscular disorders : NMD 2022; (32(1)):75-79 doi:10.1016/j.nmd.2021.11.007.

Nerve ultrasound detects abnormally small nerves in patients with spinal and bulbar muscular atrophy.

Pelosi L, Ghosh A, Leadbetter R, et al.

Muscle & nerve 2022; (65(5)):599-602 doi:10.1002/mus.27509.

Castration-resistant prostate cancer diagnosed during leuprorelin treatment for spinal and bulbar muscular atrophy.

Yanase A, Sugihara T, Akimoto T, et al.

IJU case reports 2022; (5(4)):251-254 doi:10.1002/iju5.12447.

SAFETY AND TOLERABILITY OF STRENGTH TRAINING IN SPINAL AND BULBAR MUSCULAR ATROPHY: A CASE REPORT.

Shieh V, Zampieri C, Stout P, et al.

Journal of rehabilitation medicine. Clinical communications 2022; (5()):2513 doi:10.2340/jrmcc.v5.2513.

Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA).

Fenu S, Tramacere I, De Giorgi F, Pareyson D

Journal of neurology, neurosurgery, and psychiatry 2023; (94(2)):161 doi:10.1136/jnnp-2022-329616.

Kennedy's disease presented with mastication fatigue combined with positive titin antibody: a case report.

Ji G, Huang R, Zhou X, et al.

BMC neurology 2022; (22(1)):425 doi:10.1186/s12883-022-02971-0.

Troponin T in spinal and bulbar muscular atrophy (SBMA).

Musso G, Blasi L, Mion MM, et al.

Journal of the neurological sciences 2024; (456()):122816 doi:10.1016/j.jns.2023.122816.

Case report: Klinefelter syndrome may protect against the development of spinal and bulbar muscular atrophy.

Akanuma H, Kadowaki S, Kanai K

Frontiers in neurology 2024; (15()):1340694 doi:10.3389/fneur.2024.1340694.

A preliminary study on the effects of long-term robot suit exercise training on gait function and quality of life in patients with spinal and bulbar muscular atrophy.

Hirayama T, Morioka H, Sugisawa T, et al.

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2024; (128()):110778 doi:10.1016/j.jocn.2024.110778.

Computed tomography-based radiological gynecomastia in SBMA as an independent differential diagnostic biomarker: a retrospective study.

Kang M, Kim BJ, Nguyen B, Park JS

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(2)):783-789 doi:10.1007/s10072-024-07820-1.

Respiratory Trajectories and Correlation with Serum Biochemical Indices in Spinal and Bulbar Muscular Atrophy.

Ginanneschi F, Bigliazzi C, Cimmino FA, et al.

Brain sciences 2024; (14(11)) doi:10.3390/brainsci14111057.

Different patterns of fasciculation in spinal and bulbar muscular atrophy and amyotrophic lateral sclerosis: a muscle ultrasonographic study.

Nara T, Shibuya K, Ikeda S, et al.

BMJ neurology open 2025; (7(1)):e001065 doi:10.1136/bmjno-2025-001065.

Identifying Clinical Measures Related to Falls in Ambulatory Patients with Spinal and Bulbar Muscular Atrophy.

Shrader JA, Niemic AC, Jiménez-Silva R, et al.

Neurology international 2025; (17(6)) doi:10.3390/neurolint17060080.

The spinal and bulbar muscular atrophy-health index: a disease-specific outcome measure.

Alqahtani A, Weinstein J, Kokkinis A, et al.

Amyotrophic lateral sclerosis & frontotemporal degeneration 2026; 1-9 doi:10.1080/21678421.2026.2620454.