ABSTRACT
OBJECTIVE: To characterize clinical aspects of Idiopathic Parkinson's disease from a movement disorders consultation in University Hospital of Rabat. METHODS: Retrospective review of medical records of 117 patients with diagnosis of Idiopathic Parkinson's disease seen in our outpatient clinic from 2006 to 2011. RESULTS: Mean age was 64 ± 10 years with predominance of men (61.5%). Mean age at disease onset was 57 ± 11 years. Early onset Parkinson's Disease was recorded in 12.8%. The median duration of disease was 5 years. Initial symptom appeared on the right side in 56.5%. Tremor presentation was the most frequent (40.2%). Symptom severity was mild to moderate in 80% of cases (UPDRS < 30). Forty four per cent of patients were receiving both Dopamine Agonists and Levodopa and in 69% of cases Levodopa was introduced within the first year following onset. The mean Levodopa Equivalent Doses (LED) was 667 ± 446 mg/day. Motor complications were found in 42% with motor fluctuations in 28.7% and 2dyskinesias in 26.7%. Non motor complications are represented mainly by autonomic disorders (44%). There were no differences in the clinical presentation related to the age at onset. Age of onset < 45 and LED > 600 mg are identified as risk factors for motor fluctuations whereas duration of Levodopa treatment is a risk factor of dyskinesias. CONCLUSION: Our patients are younger compared to most series with high prevalence of early onset forms. In the majority of cases, Levodopa was introduced within the first year following onset which expose patients to dyskinesias early in the course of the disease.
ABSTRACT
BACKGROUND: Single-gene disorders related to ischemic stroke seem to be an important cause of stroke in young patients without known risk factors. To identify new genes responsible of such diseases, we studied a consanguineous Moroccan family with three affected individuals displaying hereditary leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa that appears to segregate in autosomal recessive pattern. METHODS: All family members underwent neurological and radiological examinations. A genome wide search was conducted in this family using the ABI PRISM linkage mapping set version 2.5 from Applied Biosystems. Six candidate genes within the region linked to the disease were screened for mutations by direct sequencing. RESULTS: Evidence of linkage was obtained on chromosome 17q24.2-25.3. Analysis of recombination events and LOD score calculation suggests linkage of the responsible gene in a genetic interval of 11 Mb located between D17S789 and D17S1806 with a maximal multipoint LOD score of 2.90. Sequencing of seven candidate genes in this locus, ATP5H, FDXR, SLC25A19, MCT8, CYGB, KCNJ16 and GRIN2C, identified three missense mutations in the FDXR gene which were also found in a homozygous state in three healthy controls, suggesting that these variants are not disease-causing mutations in the family. CONCLUSION: A novel locus for leucoencephalopathy with ischemic stroke, dysmorphic syndrome and retinitis pigmentosa has been mapped to chromosome 17q24.2-25.3 in a consanguineous Moroccan family.
