ABSTRACT
Presentamos dos pacientes no relacionados con ataxia cerebelosa de inicio tardío asociada con neuropatía y tos seca de larga data. Un paciente tenía dos hermanos afectados con neuropatía sensorial y tos. Ambos probandos tuvieron investigaciones extensas que incluyó pruebas genéticas negativas para las ataxias más comunes, así como pruebas paraneoplásicas y otras causas inmunológicas. Ambos pacientes mostraron una expansión intrónica anormal en el pentanucleótido AAGGG del gen RFC1. Esta etiología se informa como causa frecuente de ataxia de inicio en adultos; la presencia de tos puede conducir al diagnóstico correcto.
We report two unrelated patients with late-onset cerebellar ataxia associated with neuropathy and a long-standing dry cough. One patient had two siblings affected with sensory neuropathy and cough. Both probands had extensive investigations including genetics testing negative for most common ataxias as well as testing for paraneoplasic and other immunologic causes. Both patients showed an abnormal intronic expansion in the pentanucleotide AAGGG of the gene RFC1. This etiology is being reported as frequent cause of adult-onset ataxia; the presence of cough may lead to the correct diagnosis.
Subject(s)
Humans , Male , Female , Middle Aged , Aged , Cerebellar Ataxia/genetics , Replication Protein C/genetics , Mutation , Age of OnsetABSTRACT
Hereditary neuropathy with liability to pressure palsies (HNPP) is a rare autosomal dominant neuropathy characterized by recurrent episodes of painless multiple nerve entrapments. We present five cases of HNPP confirmed by clinical and electrophysiological studies. Genetic confirmation of the diagnosis was performed in only one of the cases, given the fact that there are no laboratories performing this test inChile. This emphasizes the importance of electrophysiological diagnostic suspicion and the need for electrophysiological studies in family members even when asymptomatic.
Subject(s)
Humans , Male , Adult , Female , Middle Aged , Hereditary Sensory and Motor Neuropathy/diagnosis , Hereditary Sensory and Motor Neuropathy/genetics , Nervous System MalformationsABSTRACT
Chronic demyelinating polyneuropathies are a group of disease with a difficult differential diagnosis especially if they are axonal, demyielinating, hereditary or adquired. The clinical electrophisiology and laboratories study can help to classificated and to determinate if are susceptible to treat. We described the types of demyelinating polyneuropathies and the clinical and electrophisyology criteria used to diagnosis, remarking the limitation of these criteria.