RESUMO
Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.
Assuntos
Anticorpos/sangue , Ataxia Cerebelar/imunologia , Glutamato Descarboxilase/imunologia , Rigidez Muscular Espasmódica/imunologia , Adolescente , Adulto , Brasil , Ataxia Cerebelar/líquido cefalorraquidiano , Ataxia Cerebelar/diagnóstico , Criança , Eletrodiagnóstico/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Células Parietais Gástricas/imunologia , Rigidez Muscular Espasmódica/líquido cefalorraquidiano , Rigidez Muscular Espasmódica/diagnóstico , Adulto JovemRESUMO
Neurological disorders associated with glutamic acid decarboxylase (GAD) antibodies are rare pleomorphic diseases of uncertain cause, of which stiff-person syndrome (SPS) is the best-known. Here, we described nine consecutive cases of neurological disorders associated with anti-GAD, including nine patients with SPS and three cases with cerebellar ataxia. Additionally, four had hypothyroidism, three epilepsy, two diabetes mellitus and two axial myoclonus.
Distúrbios neurológicos associados com anticorpos anti-GAD são doenças pleomórficas, raras, de causa incerta, das quais a rigidez muscular espasmódica (SPR) é a mais conhecida. Neste estudo, descrevemos nove casos consecutivos de distúrbios neurológicos associados com a presença de anticorpos anti-GAD, incluindo nove pacientes com SPR e três casos com ataxia cerebelar. Adicionalmente, foram encontrados quatro casos com hipotireoidismo, três com epilepsia, dois com diabetes mellitus e dois casos com mioclonia axial.
Assuntos
Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem , Anticorpos/sangue , Ataxia Cerebelar/imunologia , Glutamato Descarboxilase/imunologia , Rigidez Muscular Espasmódica/imunologia , Brasil , Ataxia Cerebelar/líquido cefalorraquidiano , Ataxia Cerebelar/diagnóstico , Eletrodiagnóstico/métodos , Células Parietais Gástricas/imunologia , Rigidez Muscular Espasmódica/líquido cefalorraquidiano , Rigidez Muscular Espasmódica/diagnósticoRESUMO
Lambert-Eaton myasthenic syndrome (LEMS) is an immune-mediated disorder of the neuromuscular junction that rarely is associated with cerebellar ataxia (CA). We describe two patients with non-paraneoplastic LEMS associated with CA who showed high levels of anti-P/Q-type voltage-gated calcium channels antibodies in the serum and cerebrospinal fluid, and reduced CMAP with increment after brief maximum voluntary contraction in electrophysiological studies. We suggest that LEMS should be considered in the differential diagnosis of patients with CA.