ABSTRACT
La enfermedad de Kennedy o atrofia muscular espino-bulbar es un trastorno neurodegenerativo raro de herencia recesiva ligada al cromosoma X que afecta a varones en la edad adulta. Está causado por la expansión repetida de la secuencia citosina-adenosina-guanina en el exón 1 del gen del receptor androgénico localizado en el cromosoma Xq11-12, y se caracteriza por la degeneración progresiva de las neuronas motoras espinales. Desde el punto de vista endocrinológico es común encontrar en estos pacientes datos de hipogonadismo englobados en el síndrome de resistencia androgénica, particularmente la forma parcial. Se describen 4 casos con presentación clínica neurológica típica de la enfermedad, con debilidad muscular generalizada lentamente progresiva con atrofia y afectación de musculatura bulbar; entre las manifestaciones endocrinológicas observadas la ginecomastia fue la más frecuente. El estudio molecular mostró una expansión anormal del triplete citosina-adenosina-guanina en el gen del receptor androgénico en todos los casos
Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X -linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often have the features of hypogonadism associated to the androgen insensitivity syndrome, particularly its partial forms. We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene
Subject(s)
Adult , Aged , Humans , Male , Middle Aged , Bulbo-Spinal Atrophy, X-Linked/complications , Androgen-Insensitivity Syndrome/complications , Receptors, Androgen/physiology , Genetic Diseases, X-Linked/genetics , Trinucleotide Repeat Expansion/geneticsABSTRACT
Kennedy's disease, also known as bulbospinal muscular atrophy, is a rare, X-linked recessive neurodegenerative disorder affecting adult males. It is caused by expansion of an unstable cytosine-adenine-guanine tandem-repeat in exon 1 of the androgen-receptor gene on chromosome Xq11-12, and is characterized by spinal motor neuron progressive degeneration. Endocrinologically, these patients often have the features of hypogonadism associated to the androgen insensitivity syndrome, particularly its partial forms. We report 4 cases with the typical neurological presentation, consisting of slowly progressing generalized muscle weakness with atrophy and bulbar muscle involvement; these patients also had several endocrine manifestations; the most common non-neurological manifestation was gynecomastia. In all cases reported, molecular analysis showed an abnormal cytosine-adenine-guanine triplet repeat expansion in the androgen receptor gene.
Subject(s)
Androgen-Insensitivity Syndrome/genetics , Bulbo-Spinal Atrophy, X-Linked/genetics , Adult , Aged , Creatine Kinase/blood , Disease Progression , Exons/genetics , Follicle Stimulating Hormone/metabolism , Gonadotropin-Releasing Hormone/pharmacology , Gynecomastia/etiology , Hormones/blood , Humans , Luteinizing Hormone/metabolism , Male , Middle Aged , Muscle Weakness/etiology , Receptors, Androgen/genetics , Trinucleotide Repeat ExpansionABSTRACT
No disponible
