ABSTRACT
BACKGROUND: Tremor frequently occurs in patients taking valproate and may resemble that observed in patients with essential tremor (ET). We aimed to compare the distribution, severity, and functional impact of both types of tremor. METHODS: Among 118 consecutive individuals taking valproate, we identified 28 patients with valproate-induced tremor severe enough to require pharmacological treatment; through evaluations using the Clinical Rating Scale for Tremor (CRST), they were compared with 29 consecutive patients with ET. RESULTS: Patients with valproate-induced tremor were significantly younger than those with ET: 35.6 ± 15.4 vs 58.8 ± 20.5 years (P < .001), with a shorter evolution time of tremor (P < .001). Total CRST scores did not differ between groups (P = .164), neither in subscores of Parts A (P = .321), B (P = .094), and C (P = .386). Patients with valproate-induced tremor had a higher proportion of postural tongue tremor compared with ET patients: 22 (79%) vs 15 (52%) (P = .034). A frank tremor axis in the Archimedes spirals was observed in a higher proportion of patients with ET compared to valproate-induced tremor: 31% vs 3.6% (P = .006). CONCLUSIONS: Patients with valproate-induced tremor requiring pharmacological treatment have similar distribution, CRST scores, and functional impact than those with ET.
Subject(s)
Essential Tremor/diagnosis , GABA Agents/adverse effects , Tremor/chemically induced , Tremor/diagnosis , Valproic Acid/adverse effects , Adult , Aged , Diagnosis, Differential , Female , Humans , Male , Middle AgedABSTRACT
BACKGROUND: Spinocerebellar ataxias (SCA) are a group of rare hereditary neurodegenerative disorders. Rare cases of two SCA mutations in the same individual have been reported in the literature, however, family descriptions are lacking. AIMS: To characterize a family with combined SCA2 and SCA10 mutations. MATERIALS & METHODS: Analysis of the clinical features and genetic findings of a Bolivian family expressing both SCA2 and SCA10 mutations. RESULTS: The index case and his mother had both SCA2 and SCA10 mutations with a combined clinical phenotype of both disorders, including slow saccades (SCA2) and seizures (SCA10). The uncle of the index case had only an SCA10 mutation. DISCUSSION: Although the presence of two SCA mutations in the same individuals may be coincidental, the low probability of having both mutations suggests that these mutations might be particularly prevalent in Bolivian population. CONCLUSION: This is the first description of a family with two SCA mutations with affected subjects having a combined SCA2 and SCA10 phenotype.
Subject(s)
Ataxin-10/genetics , Ataxin-2/genetics , Spinocerebellar Ataxias/genetics , Bolivia , DNA Repeat Expansion/genetics , Female , Humans , Male , Middle Aged , Mutation , Pedigree , PhenotypeABSTRACT
BACKGROUND AND PURPOSE: Although pregnancy and postpartum have long been associated with stroke, there is a dearth of information in Latino-American populations. The aim of this study was to describe the cerebrovascular complications occurring during pregnancy/postpartum and compare the characteristics amongst stroke types occurring in this period in Hispanic women. PATIENTS AND METHODS: We studied 240 women with cerebrovascular complications during pregnancy and the first 5 weeks postpartum, from our stroke registry. Patients were classified into three groups: cerebral venous thrombosis (CVT), ischaemic stroke (IS), and intracerebral hemorrhage (ICH). For each group, clinical data, timing of the event, and outcome were analyzed. RESULTS: Of the 240 women, 136 had CVT (56.7%), 64 IS (26.7%), and 40 ICH (16.6%). In 72 women (30%), the event occurred during pregnancy, in 153 (64%) during postpartum, and in 15 (6%) closely related to labor. CVT was more common in the first trimester of pregnancy and in the second and third weeks following delivery; whilst IS and ICH were seen mainly during pregnancy and the first 2 weeks following delivery. Pre-eclampsia/eclampsia was more common in patients with ICH (57.5%) and IS (36%) than in those with CVT (9.6%) (P < 0.001). An excellent recovery (modified Rankin Scale: 0-1) was observed amongst women with CVT (64%) and IS (50%) compared to ICH (32%), (P = 0.004). CONCLUSIONS: Pre-eclampsia/eclampsia is a frequent risk factor in patients with ICH and IS, but not in CVT. Stroke types clustered different within the pregnancy-postpartum period. A good prognosis is observed in patients with CVT.
Subject(s)
Cerebrovascular Disorders/diagnosis , Pregnancy Complications, Cardiovascular/diagnosis , Puerperal Disorders/diagnosis , Adolescent , Adult , Cerebrovascular Disorders/epidemiology , Cerebrovascular Disorders/ethnology , Comorbidity/trends , Female , Hispanic or Latino , Humans , Pregnancy , Pregnancy Complications, Cardiovascular/epidemiology , Pregnancy Complications, Cardiovascular/ethnology , Prognosis , Puerperal Disorders/epidemiology , Puerperal Disorders/ethnology , Registries , Stroke/diagnosis , Stroke/ethnology , Young AdultABSTRACT
BACKGROUND: Subarachnoid hemorrhage (SAH) is a rare complication of systemic lupus erythematosus (SLE). METHODS: We made a retrospective search for patients with SLE and nontraumatic SAH from 1990 to 2006. RESULTS: We found 10 patients with SLE and primary SAH of a total of 1,077 patients with SLE (0.93%); mean age of onset was 37.4 +/- 15.25 years and the mean duration of SLE at the onset of SAH was 98.3 +/- 50.32 months. SLEDAI and chronic damage scores were 3.67 +/- 5.20 (n = 9) and 2.90 +/- 1.45 (n = 10), respectively; 60% of patients had high Hunt-Hess scores and in only 50% of cases a saccular aneurysm was identified. CONCLUSIONS: SAH presents in about 1% of SLE patients. Long duration of SLE and chronic damage scores might be associated risk factors.
