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References from Beyond the brain: Polyglutamine disease pathology outside the nervous system. Local targets link to admitted publications; unresolved targets remain external evidence.
Autonomic nervous system function in Huntington’s disease
10.1136/jnnp.72.6.726 · 2002 · External reference
Advances in Huntington’s disease biomarkers: a 10-year bibliometric analysis and a comprehensive review
10.3390/biology14020129 · 2025 · External reference
Brugada syndrome in spinal and bulbar muscular atrophy
2014 · External reference
Spectral analysis of heart rate variability in patients with Machado-Joseph disease
10.1016/j.autneu.2009.11.008 · 2010 · External reference
Hypothalamic dysfunction and neuroendocrine and metabolic alterations in Huntington’s disease: clinical consequences and therapeutic implications
2007 · External reference
Molecular genetics of hereditary ataxias
1994 · External reference
Molecular and clinical studies in SCA-7 define a broad clinical spectrum and the infantile phenotype
10.1212/wnl.51.4.1081 · 1998 · External reference
Blood-to-brain communication in aging and rejuvenation
10.1038/s41593-022-01238-8 · 2023 · External reference
A novel pathogenic pathway of immune activation detectable before clinical onset in Huntington’s disease
10.1084/jem.20080178 · 2008 · External reference
Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patients
2017 · External reference
High-resolution respirometry of fine-needle muscle biopsies in pre-manifest Huntington’s disease expansion mutation carriers shows normal mitochondrial respiratory function
10.1371/journal.pone.0175248 · 2017 · External reference
Brain-periphery interactions in Huntington’s disease: mediators and lifestyle interventions
10.3390/ijms25094696 · 2024 · External reference
Use of hand-held dynamometry in the evaluation of lower limb muscle strength in people with Huntington’s disease
10.1007/s00415-008-0964-x · 2008 · External reference
Ophthalmic features of spinocerebellar ataxia type 7
10.1038/eye.2017.135 · 2018 · External reference
Evidence of cardiac electrical remodeling in patients with Huntington disease
10.1002/brb3.1077 · 2018 · External reference
Plasma inflammatory biomarkers for Huntington’s disease patients and mouse model
10.1016/j.bbi.2014.09.011 · 2015 · External reference
DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder
10.1007/s00415-020-10218-6 · 2021 · External reference
Metabolic disturbances in plasma as biomarkers for Huntington’s disease
10.1016/j.jnutbio.2015.12.001 · 2016 · External reference
A pilot study: handgrip as a predictor in the disease progression of SCA3
10.1186/s13023-023-02948-3 · 2023 · External reference
Stage-specific serum proteomic signatures reveal early biomarkers and molecular pathways in Huntington’s disease progression
10.3390/cells14151195 · 2025 · External reference
Systemic manifestation and contribution of peripheral tissues to Huntington’s disease pathogenesis
10.1016/j.arr.2021.101358 · 2021 · External reference
Muscle-to-CNS signaling in physiological homeostasis, aging, and disease
10.1016/j.molmed.2026.03.006 · 2026 · External reference
Increased apoptosis, huntingtin inclusions and altered differentiation in muscle cell cultures from Huntington’s disease subjects
10.1038/sj.cdd.4401967 · 2006 · External reference
Low anaerobic threshold and increased skeletal muscle lactate production in subjects with Huntington’s disease
10.1002/mds.23258 · 2011 · External reference
Body composition and bone mineral density in Huntington’s disease
10.1016/j.nut.2018.08.005 · 2019 · External reference
An established case of dentatorubral pallidoluysian atrophy (DRPLA) with unusual features on muscle biopsy
10.1053/ejpn.2000.0279 · 2000 · External reference
Neuro-cardio mechanisms in Huntington’s disease and other neurodegenerative disorders
10.3389/fphys.2018.00559 · 2018 · External reference
Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion
10.1038/ng0997-65 · 1997 · External reference
A comprehensive endocrine description of Kennedy’s disease revealing androgen insensitivity linked to CAG repeat length
2002 · External reference
A comprehensive endocrine description of Kennedy’s disease revealing androgen insensitivity linked to CAG repeat length
2002 · External reference
Autonomic nervous function in Huntington’s disease
10.1001/archneur.1988.00520270087025 · 1988 · External reference
Infantile spinocerebellar ataxia type 7: case report and a review of the literature
10.1016/j.jns.2015.04.040 · 2015 · External reference
Role of defective calcium regulation in cardiorespiratory dysfunction in Huntington’s disease
10.1172/jci.insight.140614 · 2020 · External reference
Second cistron in CACNA1A gene encodes a transcription factor mediating cerebellar development and SCA6
10.1016/j.cell.2013.05.059 · 2013 · External reference
Interleukin-6 as a marker of Huntington’s disease progression: systematic review and meta-analysis
2023 · External reference
Prevalence of metabolic syndrome and non-alcoholic fatty liver disease in a cohort of Italian patients with spinal-bulbar muscular atrophy
2018 · External reference
Metabolic alterations in spinal and bulbar muscular atrophy
10.1016/j.neurol.2020.03.020 · 2020 · External reference
Skeletal muscle characteristics and mitochondrial function in Huntington’s disease patients
10.1002/mds.27031 · 2017 · External reference
Clinical features of Huntington’s disease
10.1007/978-3-319-71779-1_1 · 2018 · External reference
Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington’s disease knock-in mice
10.1093/hmg/ddg046 · 2003 · External reference
Fibroblasts in Huntington’s disease
10.1056/nejm197512112932403 · 1975 · External reference
Skin fibroblasts in Huntington disease
1981 · External reference
Body composition analysis in premanifest Huntington’s disease reveals lower bone density compared with controls
10.1371/currents.rrn1214 · 2011 · External reference
The molecular basis of spinocerebellar ataxia type 7
10.3389/fnins.2022.818757 · 2022 · External reference
Lethal form of spinocerebellar ataxia type 7 with early onset in childhood
10.1016/j.arcped.2017.09.029 · 2018 · External reference
Non-alcoholic fatty liver disease in spinal and bulbar muscular atrophy
10.1212/wnl.0000000000004748 · 2017 · External reference
Decreased N-acetyl-aspartate/choline ratio and increased lactate in the frontal lobe of patients with Huntington’s disease: a proton magnetic resonance spectroscopy study
10.1136/jnnp.62.1.27 · 1997 · External reference
Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes
10.1093/hmg/ddh139 · 2004 · External reference
Progressive hepatic mitochondrial dysfunction in premanifest Huntington’s disease
10.1002/mds.25862 · 2014 · External reference
A patient-derived cellular model for Huntington’s disease reveals phenotypes at clinically relevant CAG lengths
10.1091/mbc.e18-09-0590 · 2018 · External reference
Cardiac autonomic involvement in Huntington’s disease
10.1007/s10072-024-07428-5 · 2024 · External reference
Evidence for impairment of energy metabolism in vivo in Huntington’s disease using localized 1H NMR spectroscopy
10.1212/wnl.43.12.2689 · 1993 · External reference
A survey of protein interactions and posttranslational modifications that influence the polyglutamine diseases
10.3389/fnmol.2022.974167 · 2022 · External reference
CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
10.1038/ng1194-221 · 1994 · External reference
Bone fragility and fracture characteristics in patients with spinal and bulbar muscular atrophy
10.1111/ene.70457 · 2025 · External reference
Biomarkers in spinocerebellar ataxias
10.1007/s12311-025-01856-5 · 2025 · External reference
Heart rate variability in Huntington disease: a long-term longitudinal study
10.1159/000525415 · 2022 · External reference
Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA)
10.1038/ng0194-9 · 1994 · External reference
Myopathy as a first symptom of Huntington’s disease in a Marathon runner
10.1002/mds.21550 · 2007 · External reference
Spinocerebellar Ataxia Type 7
2026 · External reference
Polyglutamines placed into context
10.1016/s0896-6273(03)00328-3 · 2003 · External reference
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy
10.1038/352077a0 · 1991 · External reference
Glucose homeostasis in Huntington disease: abnormalities in insulin sensitivity and early-phase insulin secretion
10.1001/archneur.65.4.476 · 2008 · External reference
Impaired insulin sensitivity and secretion in normoglycemic patients with spinocerebellar ataxia type 1
10.1002/mds.23176 · 2010 · External reference
Peripheral and autonomic nervous system involvement in spinocerebellar ataxia type 3: unveiling an invisible burden
10.1007/s00415-025-13588-x · 2026 · External reference
Static and dynamic ocular motor abnormalities as potential biomarkers in spinocerebellar Ataxia type 3
10.1007/s12311-020-01217-4 · 2021 · External reference
Autophagic vacuolar myopathy involving the phenotype of spinocerebellar ataxia type 3
10.1111/neup.12860 · 2023 · External reference
Polyglutamine repeats in neurodegenerative diseases
10.1146/annurev-pathmechdis-012418-012857 · 2019 · External reference
Abnormal in vivo skeletal muscle energy metabolism in Huntington’s disease and dentatorubropallidoluysian atrophy
10.1002/1531-8249(200007)48:1<72::aid-ana11>3.0.co;2-i · 2000 · External reference
Muscle and not neuronal biomarkers correlate with severity in spinal and bulbar muscular atrophy
10.1212/wnl.0000000000007097 · 2019 · External reference
Heart rate variability during wake and sleep in Huntington’s disease patients: an observational, cross-sectional, cohort study
10.1159/000520754 · 2021 · External reference
Dysfunction of the CNS-heart axis in mouse models of Huntington’s disease
10.1371/journal.pgen.1004550 · 2014 · External reference
Cardiac dysfunction in the R6/2 mouse model of Huntington’s disease
10.1016/j.nbd.2006.09.016 · 2007 · External reference
Early energy deficit in Huntington disease: identification of a plasma biomarker traceable during disease progression
10.1371/journal.pone.0000647 · 2007 · External reference
Dietary anaplerotic therapy improves peripheral tissue energy metabolism in patients with Huntington’s disease
10.1038/ejhg.2010.72 · 2010 · External reference
Effect of Triheptanoin on caudate atrophy and motor scores in patients with early-stage Huntington disease: a phase II study
10.1212/wnl.0000000000210194 · 2025 · External reference
Heart rate variability in type 2 spinocerebellar ataxia
2010 · External reference
Autonomic dysfunction in presymptomatic spinocerebellar ataxia type-2
10.1111/j.1600-0404.2011.01494.x · 2012 · External reference
Huntington’s disease and diabetes: chronological sequence of its association
10.3233/jhd-170253 · 2017 · External reference
Renal complications in two patients with dentatorubral-pallidoluysian atrophy
10.5414/cnp67044 · 2007 · External reference
Modulation of neurodegeneration by molecular chaperones
10.1038/nrn1587 · 2005 · External reference
Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs
10.1007/s00415-012-6787-9 · 2013 · External reference
Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy
10.1212/wnl.32.8.798 · 1982 · External reference
Insulin resistance and motor function in spinal and bulbar muscular atrophy
2017 · External reference
A metabolic study of Huntington’s disease
10.1371/journal.pone.0146480 · 2016 · External reference
Huntington’s disease affects mitochondrial network dynamics predisposing to pathogenic mitochondrial DNA mutations
10.1093/brain/awae007 · 2024 · External reference
Nuclear localization of a non-caspase truncation product of atrophin-1, with an expanded polyglutamine repeat, increases cellular toxicity
10.1074/jbc.m211224200 · 2003 · External reference
Cutaneous accumulation of abnormal polyglutamine proteins of patients with dentatorubral-pallidoluysian atrophy
10.1111/j.1468-1331.2009.02658.x · 2009 · External reference
Polyglutamine spinocerebellar ataxias - from genes to potential treatments
10.1038/nrn.2017.92 · 2017 · External reference
Hypothalamic-endocrine aspects in Huntington’s disease
10.1111/j.1460-9568.2006.04985.x · 2006 · External reference
Systemic factors as mediators of brain homeostasis, ageing and neurodegeneration
10.1038/s41583-019-0255-9 · 2020 · External reference
Microglial activation in regions related to cognitive function predicts disease onset in Huntington’s disease: a multimodal imaging study
2011 · External reference
Spinocerebellar ataxias type 1, 2 and 3: a study of heart rate variability
10.1111/j.1600-0404.2007.00945.x · 2008 · External reference
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
10.1136/jnnp-2015-311305 · 2016 · External reference
Biomarkers of spinal and bulbar muscle atrophy (SBMA): a comprehensive review
10.3389/fneur.2018.00844 · 2018 · External reference
Optic disc and retinal architecture changes in patients with spinocerebellar ataxia type 2
10.1002/mds.29675 · 2024 · External reference
Inclusion body myositis in patients with spinocerebellar ataxia types 3 and 6
10.1136/jnnp-2020-323270 · 2020 · External reference
Heterogeneous phenotype and cardiovascular comorbidities in Swedish patients with spinobulbar muscular atrophy
10.1007/s00415-025-13605-z · 2026 · External reference
The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy
10.1007/s00415-018-8790-2 · 2018 · External reference
Mitochondrial impairment in patients and asymptomatic mutation carriers of Huntington's disease
10.1002/mds.20373 · 2005 · External reference
Neuropathological and molecular studies of spinocerebellar ataxia type 6 (SCA6)
10.1007/s004010050787 · 1998 · External reference
Cardiac dysfunction in the BACHD mouse model of Huntington’s disease
10.1371/journal.pone.0147269 · 2016 · External reference
HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism
10.1093/hmg/ddi319 · 2005 · External reference
Sympathetic skin response and heart rate variability in patients with Huntington disease
10.1001/archneur.56.10.1248 · 1999 · External reference
Mitochondrial DNA damage is associated with reduced mitochondrial bioenergetics in Huntington’s disease
10.1016/j.freeradbiomed.2012.06.008 · 2012 · External reference
A critical evaluation of inflammatory markers in Huntington’s disease plasma
10.3233/jhd-130049 · 2013 · External reference
Specific biomarkers in spinocerebellar ataxia type 3: a systematic review of their potential uses in disease staging and treatment assessment
10.3390/ijms25158074 · 2024 · External reference
J wave syndromes in patients with spinal and bulbar muscular atrophy
10.1007/s00415-022-10992-5 · 2022 · External reference
Electrocardiogram abnormalities suggest aberrant cardiac conduction in Huntington’s disease
10.1002/mdc3.12596 · 2018 · External reference
The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2
1995 · External reference
Hepatic mitochondrial dysfunction in manifest and premanifest Huntington disease
10.1212/wnl.0b013e318282514e · 2013 · External reference
Depressed baroreflex sensitivity from spontaneous oscillations of heart rate and blood pressure in SCA1 and SCA2
10.1111/ane.13151 · 2019 · External reference
Heart rate variability and falls in Huntington’s disease
10.1007/s10286-020-00669-2 · 2021 · External reference
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes
10.1016/0092-8674(93)90585-e · 1993 · External reference
An impaired metabolism of nucleotides underpins a novel mechanism of cardiac remodeling leading to Huntington’s disease related cardiomyopathy
10.1016/j.bbadis.2016.08.019 · 2016 · External reference
Polyglutamine disorders including Huntington’s disease
2007 · External reference
Purine nucleotides metabolism and signaling in Huntington’s disease: search for a target for novel therapies
10.3390/ijms22126545 · 2021 · External reference
Spinocerebellar Ataxia Type 17
2005 · External reference
Massive CAG repeat expansion and somatic instability in maternally transmitted infantile spinocerebellar ataxia type 7
10.1001/jamaneurol.2014.1902 · 2015 · External reference
Clinical correlates of mitochondrial function in Huntington’s disease muscle
10.1002/mds.21540 · 2007 · External reference
Exploring the brain-body composition relationship in Huntington’s disease
2020 · External reference
Inflammation in Huntington’s disease: a few new twists on an old tale
10.1016/j.jneuroim.2020.577380 · 2020 · External reference
Kennedy’s disease and partial androgen insensitivity syndrome. Report of 4 cases and literature review
10.1016/j.endonu.2015.02.008 · 2015 · External reference
Beyond the brain: widespread pathology in Huntington’s disease
10.1016/s1474-4422(09)70178-4 · 2009 · External reference
Peripheral inflammation links with the severity of clinical phenotype in spinocerebellar Ataxia 2
10.1002/mds.29359 · 2023 · External reference
Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise
10.1111/j.1469-8749.2007.00140.x · 2007 · External reference
Abnormal peripheral chemokine profile in Huntington’s disease
2011 · External reference
Cutaneous changes in Huntington’s disease. Preliminary report
10.1111/j.1365-4362.1984.tb01244.x · 1984 · External reference
Peripheral inflammation in spinocerebellar ataxia type 3: associations with genetic and clinical manifestations
10.1007/s00011-025-02102-8 · 2025 · External reference
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel
10.1038/ng0197-62 · 1997 · External reference
Skeletal muscle pathology in Huntington’s disease
10.3389/fphys.2014.00380 · 2014 · External reference
Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia
10.1038/sj.ejhg.5200617 · 2001 · External reference