Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.

Objective: To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation.

Design: Case series. Clinical details and laboratory results were collected by direct evaluation and previous medical records.

Migraine and cerebral infarction in young people.

The objective of this study is to investigate relationship between migraine and cerebral infarction in young people. Patients aging 16-44 years, referred for stroke and age- and gender-matched controls were investigated for migraine following the International Headache Society criteria. Included people were 314 strokes and 314 controls.

The transient syndrome of headache with neurological deficits, cerebrospinal fluid pleocytosis and acute confusional state: a case report.

The syndrome of transient Headache and Neurological Deficits with cerebrospinal fluid Lymphocytosis (HaNDL) now referred to in the IHS ICHD-II code 7.8, is only infrequently accompanied by a confusional state and severe agitation. We report the case of a 34-year-old man who suffered from three episodes of headache with transient focal neurological deficits that were consistent with HaNDL but that were accompanied by an intense, confusional agitated state that required admission, in the first episode, in a psychiatric unit.

Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.

Emery-Dreifuss muscular dystrophy (EMD) is a condition characterized by the clinical triad of early-onset contractures, progressive weakness in humeroperoneal muscles, and cardiomyopathy with conduction block. The disease was described for the first time as an X-linked muscular dystrophy, but autosomal dominant and autosomal recessive forms were reported. The genes for X-linked EMD and autosomal dominant EMD (AD-EMD) were identified.