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Arch Hellen Med, 34(3), May-June 2017, 383-389


Spinobulbar muscular atrophy (Kennedy's disease) in the Greek population

M. Breza, G. Koutsis, A. Kladi, G. Karadima, M. Panas
Neurogenetics Unit, First Department of Neurology, "Eginition" Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece

OBJECTIVE Spinobulbar muscular atrophy, also known as Kennedy's disease, is a rare, X-linked, hereditary lower motor neuron disease, characterized by progressive muscular weakness. To date no comprehensive data have been published on the disease in Greece. The objective of this study was to investigate the frequency, geographical distribution and characteristics of Kennedy's disease in the Greek population.

METHOD The study included 234 subjects (213 males with suspected Kennedy's disease and 21 female suspected carriers) referred to the Neurogenetics Unit of the "Eginition" Hospital, University of Athens, over a period of 16 years. All the patients were assessed clinically and the CAG-repeat number was estimated in the androgen receptor (AR) gene, using peripheral blood DNA.

RESULTS From 2001 to 2016, a total of 16 male patients were found positive for Kennedy's disease and 10 women were shown to be mutation carriers. The limited number of Greek patients with Kennedy's disease reflects the low prevalence of the disorder in the Greek population. A higher prevalence was noted in the Aegean island of Chios (cluster). The genotypic and phenotypic spectrum of Kennedy's disease was not significantly different from that documented in other populations.

CONCLUSIONS The frequency of Kennedy's disease in Greece is very low, although the possibility of underdiagnosis cannot be excluded. Despite its rarity, clinicians must maintain a high index of suspicion for Kennedy's disease to allow prompt molecular and prenatal genetic testing.

Key words: Kennedy's disease, Spinobulbar muscular atrophy, X-linked disease.

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