RT Journal Article
SR Electronic
T1 Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
JF Journal of Neurology, Neurosurgery & Psychiatry
JO J Neurol Neurosurg Psychiatry
FD BMJ Publishing Group Ltd
SP 810
OP 816
DO 10.1136/jnnp-2015-311305
VO 87
IS 8
A1 Giorgia Querin
A1 Cinzia Bertolin
A1 Elisa Da Re
A1 Marco Volpe
A1 Gabriella Zara
A1 Elena Pegoraro
A1 Nicola Caretta
A1 Carlo Foresta
A1 Maria Silvano
A1 Domenico Corrado
A1 Massimo Iafrate
A1 Lorenzo Angelini
A1 Leonardo Sartori
A1 Maria Pennuto
A1 Alessandra Gaiani
A1 Luca Bello
A1 Claudio Semplicini
A1 Davide Pareyson
A1 Vincenzo Silani
A1 Mario Ermani
A1 Alberto Ferlin
A1 Gianni Sorarù
YR 2016
UL http://jnnp.bmj.com/content/87/8/810.abstract
AB Objective To carry out a deep characterisation of the main androgen-responsive tissues involved in spinal and bulbar muscular atrophy (SBMA).Methods 73 consecutive Italian patients underwent a full clinical protocol including biochemical and hormonal analyses, genitourinary examination, bone metabolism and densitometry, cardiological evaluation and muscle pathology.Results Creatine kinase levels were slightly to markedly elevated in almost all cases (68 of the 73; 94%). 30 (41%) patients had fasting glucose above the reference limit, and many patients had total cholesterol (40; 54.7%), low-density lipoproteins cholesterol (29; 39.7%) and triglyceride (35; 48%) levels above the recommended values. Although testosterone, luteinising hormone and follicle-stimulating hormone values were generally normal, in one-third of cases we calculated an increased Androgen Sensitivity Index reflecting the presence of androgen resistance in these patients. According to the International Prostate Symptom Score (IPSS), 7/70 (10%) patients reported severe lower urinal tract symptoms (IPSS score >19), and 21/73 (30%) patients were moderately symptomatic (IPSS score from 8 to 19). In addition, 3 patients were carriers of an indwelling bladder catheter. Videourodynamic evaluation indicated that 4 of the 7 patients reporting severe urinary symptoms had an overt prostate-unrelated bladder outlet obstruction. Dual-energy X-ray absorptiometry scan data were consistent with low bone mass in 25/61 (41%) patients. Low bone mass was more frequent at the femoral than at the lumbar level. Skeletal muscle biopsy was carried out in 20 patients and myogenic changes in addition to the neurogenic atrophy were mostly observed.Conclusions Our study provides evidence of a wide non-neural clinical phenotype in SBMA, suggesting the need for comprehensive multidisciplinary protocols for these patients.