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Table 1 A list of large descriptive case series of KD in the literature (non-exhaustive list)

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

AuthorAimMethodology, level of evidencePopulationevaluation parametersMost significant results
Dejager et al., 2002 [22]Description of endocrine and metabolic changesMonocentric cohort study
Level of evidence: IV
22 KDGynecomastia, blood hormonal, lipid and glucose assessmentGynecomastia in 73% of cases, infertility or decrease of testicular volume in 60%, elevation of total cholesterol, LDL-C and triglycerides (54, 40 and 48%, respectively).
Sperfeld et al., 2005 [23]Evaluation of the incidence of laryngospasmMonocentric cohort study
Level of evidence: IV
49 KDSymptom questionnaire, respiratory tests47% of the KD patients experienced laryngospasm.
Atsuta et al., 2006 [24]Description of the natural history of KDMulticentre cohort study
Level of evidence: IV
223 KDClinical and biological parameters, Rankin scoreInverse correlation between the number of CAG repeats and the age of onset of symptoms
Chahin et al., 2008 [25]Evaluation of functional decline and prognosisSingle centre case-control study Level of evidence: III39 KD
70 Controls
10-year survival rate and functional status (ALSFRS-R) at last follow-upSurvival rate of KD was not significantly altered compared with controls (82% vs 95%, p = 0.053). The functional status was relatively preserved. Patients are mostly limited for climbing the stairs. Bulbar symptoms in all patients but no need for gastrostomy. Non-invasive ventilation was needed in one single patient.
Rhodes et al., 2009 [26]Description of the natural history of KDSingle centre cohort study, patients participating in the Dudasteride therapeutic trial. Level of evidence: IV57 KDNeurophysiological, biological, neuropsychological and quality of life parametersLong diagnostic delay (5 years). Correlation between androgen levels and muscle strength.
Soukup et al., 2009 [27]Evaluation of cognition changes in KDMonocentric case-control study Level of evidence: III20 KD
20 Controls
Neuropsychological assessment evaluating executive functions, memory, attentionExistence of a subclinical impairment of frontal and temporal functions
Hashizume [28]Characterisation of the natural history of KDMonocentric cohort study
Level of evidence: IV
34 KDQuantitative outcome measures including functional and blood parametersDisease progression is not affected by CAG repeat length
Objective motor functional tests such as the 6-min walk test and grip power or serum creatinine levels are more sensitive at an early stage than by the functional rating scales
Araki et al., 2014 [29]Evaluation of ECG abnormalitiesMonocentric cohort study
Level of evidence: IV
144 KDECG parametersECG abnormalities in 49% of cases, mainly consisting in ST segment anomalies in V1-V3 (19%) and V5-V6 (18%). Brugada syndrome (12%) with two cases of sudden death
Querin et al., 2015 [30]Characterisation of the extraneurological profile of KDMulticentre cohort study
Level of evidence: IV
73 KDBiology, androgen sensitivity index, genito-urinary symptoms, dual-energy X-ray absorptiometry, muscle biopsyAndrogen insensitivity. Increased prevalence of genito-urinary symptoms and diminution of bone mass.
Bertolin et al., 2016 [31]Genotype-phenotype associationsMulticentre cohort study
Level of evidence: IV
159 KDCorrelation between the number of CAG repeats and motor functionNo genotype/phenotype correlations
Nordenvall et al., 2016 [32]Establishing the incidence of hypospadiasData analysis from a national KD registry
Level of evidence: IV
4 KDAssociation between hypospadia and KDHypospadia in KD may be underestimated
Francini-Pesenti, 2018 [33]Evaluating the prevalence of metabolic syndromeMonocentric cohort study
Level of evidence: IV
47 KDMetabolic syndrome
Insuline resistance
Non-alcoholic liver disease
High prevalence of insulin resistance, metabolic syndrome and non-alcoholic liver disease and NAFLD in SBMA patients
Rosenbohm et al., 2018 [34]Evaluating the prevalence of metabolic changesMonocentric cohort study
Level of evidence: IV
80 KDPanel of 28 laboratory parametersDiabetes, hyperlipidemia and androgen insensitivity
Marcato et al., 2018 [35]Establishing the prevalence of cognitive changesMonocentric cohort study
Level of evidence: IV
64 KDBattery of neuropsychological testAbsence of neuropsychological abnormalities
Spinelli et al., 2019 [36]Characterising cerebral radiological alterationsMonocentric case-control study. Level of evidence: III25 KD
24 Healthy
25 ALS
35 Lower motor neuron-predominant conditions
MRI parameters: cortical thickness and diffusion tensor imaging (DTI)Absence of abnormalities of the cerebral gray and white matters in KD patients.
  1. Abbreviation: ECG electrocardiogram, ENMG electroneuromyogram, MRI magnetic resonance imaging