PT  - JOURNAL ARTICLE
AU  - Giorgia Querin
AU  - Cinzia Bertolin
AU  - Elisa Da Re
AU  - Marco Volpe
AU  - Gabriella Zara
AU  - Elena Pegoraro
AU  - Nicola Caretta
AU  - Carlo Foresta
AU  - Maria Silvano
AU  - Domenico Corrado
AU  - Massimo Iafrate
AU  - Lorenzo Angelini
AU  - Leonardo Sartori
AU  - Maria Pennuto
AU  - Alessandra Gaiani
AU  - Luca Bello
AU  - Claudio Semplicini
AU  - Davide Pareyson
AU  - Vincenzo Silani
AU  - Mario Ermani
AU  - Alberto Ferlin
AU  - Gianni Sorarù
TI  - Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients
AID  - 10.1136/jnnp-2015-311305
DP  - 2016 Aug 01
TA  - Journal of Neurology, Neurosurgery & Psychiatry
PG  - 810--816
VI  - 87
IP  - 8
4099  - http://jnnp.bmj.com/content/87/8/810.short
4100  - http://jnnp.bmj.com/content/87/8/810.full
SO  - J Neurol Neurosurg Psychiatry2016 Aug 01; 87
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.