RESUMO
Autosomal dominant progressive external ophthalmoplegia (adPEO) is caused by mutations in at least three different genes: ANT1 (chromosome 4q34-35), TWINKLE, and POLG. The ANT1 gene encodes the adenine nucleotide translocator-1 (ANT1). We identified a heterozygous T293C mutation of the ANT1 gene in a Greek family with adPEO. The resulting leucine to proline substitution likely modifies the secondary structure of the ANT1 protein. ANT1 gene mutations may account for adPEO in families with different ethnic backgrounds.
Assuntos
Translocador 1 do Nucleotídeo Adenina/genética , Cromossomos Humanos Par 4/genética , Mutação de Sentido Incorreto/genética , Oftalmoplegia Externa Progressiva Crônica/genética , Adulto , Idoso , Biópsia , Feminino , Grécia , Humanos , Masculino , Pessoa de Meia-Idade , Músculos/patologia , Oftalmoplegia Externa Progressiva Crônica/patologia , LinhagemRESUMO
Extramedullary haematopoiesis, a common finding in thalassaemia, is rarely localized in the spinal cord and even more rarely has neurological manifestations. We present two patients suffering from thalassaemia (intermedia and beta homozygous) and paraparesis due to spinal cord compression from intrathoracic extramedullary haematopoietic masses. Diagnosis was based on magnetic resonance imaging findings, and treatment consisted of blood hypertransfusions. The majority of published cases have been successfully treated by radiation and in some cases by blood transfusions. Our two patients completely recovered, and there has been no recurrence during the 4 years since their treatment. Diagnosis and treatment of this rare condition are discussed.
Assuntos
Transfusão de Sangue , Hematopoese Extramedular/fisiologia , Compressão da Medula Espinal/etiologia , Talassemia/complicações , Adulto , Humanos , Imageamento por Ressonância Magnética , Masculino , Paraparesia/etiologia , Resultado do TratamentoRESUMO
A patient with long-standing, occult pituitary insufficiency, who developed painful muscle stiffness and superimposed spasms, closely resembling stiff-person syndrome, was described. Complete resolution of neuromuscular symptoms with hormone replacement in this case, as well as in a previously reported one, led to the suggestion that a syndrome like stiff-person could represent a rare consequence of multiple pituitary hormone deficiencies.