Neurology Journal

Objective: To describe the course, complications, and prognosis of Ullrich congenital muscular dystrophy (UCMD), with special reference to life-changing events, including loss of ambulation, respiratory insufficiency, and death.Methods: Review of the case notes of 13 patients with UCMD, aged 15 years or older at last visit, followed up at a tertiary neuromuscular centre, London, UK, from 1977 to 2007. Data collected were age at onset of symptoms, presenting symptoms, mobility, contractures, scoliosis, skin abnormalities, respiratory function, and feeding difficulties.Results: The mean age at onset of symptoms was 12 months (SD 14 months). Eight patients (61.5%) acquired independent ambulation at a mean age of 1.7 years (SD 0.8 years). Nine patients (69.2%) became constant wheelchair users at a mean age of 11.1 years (SD 4.8 years). Three patients continued to ambulate indoors with assistance. Forced vital capacity (FVC) values were abnormal in all patients from age 6 years. The mean FVC (% predicted) declined at a mean rate of 2.6% (SD 4.1%) yearly. Nine patients (69.2%) started noninvasive ventilation at a mean age of 14.3 years (SD 5.0 years). Two patients died of respiratory insufficiency.Conclusion: In Ullrich congenital muscular dystrophy (UCMD), the decline in motor and respiratory functions is more rapid in the first decade of life. The deterioration is invariable, but not always correlated with age or severity at presentation. This information should be of help to better anticipate the difficulties encountered by patients with UCMD and in planning future therapeutic trials in this condition.(C)2009AAN Enterprises, Inc.

Background: The reported prevalence of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) varies greatly, from 1.9 to 7.7 per 100,000. CIDP is reported to occur more commonly in patients with diabetes mellitus (DM) but has not been rigorously tested.Objectives: To determine the incidence (1982-2001) and prevalence (on January 1, 2000) of CIDP in Olmsted County, Minnesota, and whether DM is more frequent in CIDP.Methods: CIDP was diagnosed by clinical criteria followed by review of electrophysiology. Cases were coded as definite, probable, or possible. DM was ascertained by clinical diagnosis or current American Diabetes Association glycemia criteria.Results: One thousand five hundred eighty-one medical records were reviewed, and 23 patients (10 women and 13 men) were identified as having CIDP (19 definite and 4 probable). The median age was 58 years (range 4-83 years), with a median disease duration at diagnosis of 10 months (range 2-64 months). The incidence of CIDP was 1.6/100,000/year. The prevalence was 8.9/100,000 persons on January 1, 2000. Only 1 of the 23 CIDP patients (4%) also had DM, whereas 14 of 115 age- and sex-matched controls (12%) had DM.Conclusions: 1) The incidence (1.6/100,000/year) and prevalence (8.9/100,000) of chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) are similar to or higher than previous estimates. 2) The incidence of CIDP is similar to that of acute inflammatory demyelinating polyradiculoneuropathy within the same population. 3) Diabetes mellitus (DM) is unlikely to be a major risk covariate for CIDP, but we cannot exclude a small effect. 4) The perceived association of DM with CIDP may be due to misclassification of other forms of diabetic neuropathies and excessive emphasis on electrophysiologic criteria.(C)2009AAN Enterprises, Inc.

Objective: High-frequency stimulation of the globus pallidus internus (GPi) is a highly effective therapy in primary dystonia. Recent reports have also demonstrated almost immediate improvement of motor symptoms in patients with tardive dystonia after pallidal deep brain stimulation (DBS). Here, we show the long-term effect of continuous bilateral GPi DBS in tardive dystonia on motor function, quality of life (QoL), and mood.Methods: Nine consecutive patients undergoing DBS for tardive dystonia were assessed during continuous DBS at 3 time points: 1 week, 3 to 6 months, and last follow-up at the mean of 41 (range 18-80) months after surgery using established and validated movement disorder and neuropsychological scales. Clinical assessment was performed by a neurologist not blinded to the stimulation settings.Results: One week and 3 to 6 months after pallidal DBS, Burke-Fahn-Marsden Dystonia Rating Scale (BFMDRS) motor scores were ameliorated by 56.4 +/- 26.7% and 74.1 +/- 15.8%, BFMDRS disability scores by 62.5 +/- 21.0% and 88.9 +/- 10.3%, and Abnormal Involuntary Movement Scale (AIMS) scores by 52.3 +/- 24.1% and 69.5 +/- 27.6%, respectively. At last follow-up, this improvement compared with the presurgical assessment was maintained as reflected by a reduction of BFMDRS motor scores by 83.0 +/- 12.2%, BFMDRS disability scores by 67.7 +/- 28.0%, and AIMS scores by 78.7 +/- 19.9%. QoL improved significantly in physical components, and there was a significant improvement in affective state. Furthermore, cognitive functions remained unchanged compared with presurgical status in the long-term follow-up. No permanent adverse effects were observed.Conclusion: Pallidal deep brain stimulation is a safe and effective long-term treatment in patients with medically refractory tardive dystonia.(C)2009AAN Enterprises, Inc.

Background: Thrombotic thrombocytopenic purpura (TTP) is a rare hematologic disorder that frequently presents with neurologic involvement. However, the yield and prognostic value of acute brain neuroimaging in patients with TTP has not been studied. Our aim was to evaluate brain imaging findings in consecutive patients with TTP and assess their impact on prognosis.Methods: We retrospectively collected clinical, laboratory, and neuroradiologic information in 47 episodes of acute TTP studied with brain imaging at our medical center between 1997 and 2007. Head CT and brain MRI were evaluated independently by 2 investigators. We then performed statistical analysis to determine whether the presence of acute lesions on brain imaging was associated with worse functional outcome as assessed by the modified Rankin score upon discharge and long-term follow-up.Results: Ten patients (25%) of those who had a head CT had acute changes, half of them indicating posterior reversible encephalopathy syndrome (PRES). Most cases studied with brain MRI had acute changes (82%). More than half of those had evidence of PRES (48%). Atypical variants of PRES were seen in 2 patients with isolated basal ganglia involvement. Acute ischemia and hemorrhage were uncommon. Most patients with acute changes on brain imaging recovered favorably, and radiologic lesions were not associated with worse functional outcome.Conclusions: Posterior reversible encephalopathy syndrome is the most common brain imaging abnormality in severe manifestations of thrombotic thrombocytopenic purpura. Large infarctions and hemorrhage are infrequent. Consequently, abnormal brain neuroimaging does not seem to impact patient outcome, and full neurologic recovery is possible even in comatose patients with extensive brain abnormalities on MRI.(C)2009AAN Enterprises, Inc.