RESUMO
BACKGROUND: Mutations in the glucocerebrosidase gene (GBA) are a common genetic risk factor for Parkinson's disease (PD). Mutations in the N-terminus part of GBA are less commonly found in association with PD than those in the C-terminus. Phenotypic characterization of GBA-related PD has been challenging, in part attributed to differential impact of distinct GBA mutations. AIM: To provide a phenotypic description of two patients with PD heterozygous for the GBA mutation S107L. The S107L mutation is located in the catalytic domain of glucocerebrosidase and has not previously been reported in patients with PD. METHODS: Motor and nonmotor symptoms (NMS) of PD were evaluated using established rating scales and questionnaires. The genotype was determined by Sanger sequencing. RESULTS: Two half-brothers, both heterozygous carriers of S107L, exhibited an early PD onset with several NMS. CONCLUSIONS: In these patients, heterozygosity for S107L was associated with an early onset of PD with NMS.
RESUMO
The prognosis after TIA may be more serious than previously thought. Recent studies suggest that the risk of subsequent stroke after a TIA may be 5% within the first two days after a TIA, which emphasizes the need for urgent management and institution of therapy. A correct diagnosis is essential, but sometimes difficult because many conditions mimic TIA symptoms. Routine diagnostic procedures include a careful patient history, neurological examination, EKG, CT scan of the brain, and in selected cases carotid and cardiac ultrasound examinations. A recent survey of clinical management after TIA indicates that these investigations are sometimes delayed, particularly in non-hospitalized patients. Patients with a new TIA should immediately be referred to hospital, and ultrasound examination of the carotid arteries (when indicated) should be performed within one week (preferably even earlier) after the TIA onset.
