A new MRI rating scale for progressive supranuclear palsy and multiple system atrophy: validity and reliability

AIM To evaluate a standardised MRI acquisition protocol and a new image rating scale for disease severity in patients with progressive supranuclear palsy (PSP) and multiple systems atrophy (MSA) in a large multicentre study. METHODS The MRI protocol consisted of two-dimensional sagittal and axial T1, axial PD, and axial and coronal T2 weighted acquisitions. The 32 item ordinal scale evaluated abnormalities within the basal ganglia and posterior fossa, blind to diagnosis. Among 760 patients in the study population (PSP = 362, MSA = 398), 627 had per protocol images (PSP = 297, MSA = 330). Intra-rater (n = 60) and inter-rater (n = 555) reliability were assessed through Cohen's statistic, and scale structure through principal component analysis (PCA) (n = 441). Internal consistency and reliability were checked. Discriminant and predictive validity of extracted factors and total scores were tested for disease severity as per clinical diagnosis. RESULTS Intra-rater and inter-rater reliability were acceptable for 25 (78%) of the items scored (≥ 0.41). PCA revealed four meaningful clusters of covarying parameters (factor (F) F1: brainstem and cerebellum; F2: midbrain; F3: putamen; F4: other basal ganglia) with good to excellent internal consistency (Cronbach α 0.75-0.93) and moderate to excellent reliability (intraclass coefficient: F1: 0.92; F2: 0.79; F3: 0.71; F4: 0.49). The total score significantly discriminated for disease severity or diagnosis; factorial scores differentially discriminated for disease severity according to diagnosis (PSP: F1-F2; MSA: F2-F3). The total score was significantly related to survival in PSP (p<0.0007) or MSA (p<0.0005), indicating good predictive validity. CONCLUSIONS The scale is suitable for use in the context of multicentre studies and can reliably and consistently measure MRI abnormalities in PSP and MSA. Clinical Trial Registration Number The study protocol was filed in the open clinical trial registry (http://www.clinicaltrials.gov) with ID No NCT00211224

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease

Cerebral aneurysms and arteropathies causing severe cerebrovascular events have been reported as rare complications in patients with late-onset Pompe disease. We investigated the frequency of cerebrovascular anomalies in six patients with late-onset Pompe disease followed at our institution. Clinical data collection and magnetic resonance angiography were performed as part of routine annual examinations. Four out of six patients had brain vascular anomalies including dolichoectasia of the basilar artery and ectasia of internal carotids. These patients also complained of gastrointestinal symptoms (chronic constipation and gastrointestinal reflux). Two patients had clinical signs related to the arteriopathy, including partial paralysis of the third cranial nerve and transient ischemic attacks. At 1 year follow-up, enzyme replacement therapy did not modify the size of cerebral vessels, but patients reported a marked improvement of intestinal symptoms. In conclusion, neurologists should be aware that intracranial artery abnormalities are not infrequent in patients with late-onset Pompe disease, and they should be specifically investigated in the presence of unexplained CNS symptoms

Cortical sclerosis presenting with dementia as a sequel of rapid correction of hyponatraemia

International audienc

[Longitudinal study of health related quality of life in multiple sclerosis: correlation with MRI parameters]

[In French]International audienceINTRODUCTION: Health related quality of life (HRQOL) is often affected in multiple sclerosis (MS). Nevertheless, to our knowledge, there is no longitudinal study in the literature about the correlation between MRI parameters and HRQOL in MS patients. METHODS: We included 28 patients with clinically definite relapsing remitting MS. All patients initiated subcutaneous interferon beta-1a therapy. To assess HRQOL, we used the SEP-59 scale, the French validated translation of MSQOL-54, and the MusiQoL scale. Conventional MRI was performed every year. Lesion load (LL) and brain atrophy were automatically measured using SepINRIA, a free software developed by INRIA in Sophia Antipolis. RESULTS: The mean EDSS score was 1.7 and disease duration was 2.5 years. Our results revealed that HRQOL was significantly correlated to T1 and T2-LL with both SEP-59 and MusiQoL scales. T1-LL was better correlated with physical dimensions and T2-LL was better correlated with mental components. At 1-year follow-up, patients whose MRI showed either an increase of T1 LL or at least one gadolinium enhancing lesion had a worse HRQOL at the end of the study. Initial brain parenchymal fraction (BPF) measure was also correlated with the long-term follow-up HRQOL. EDSS scored at the end of the study had not significantly changed (1.3; P>0.05). CONCLUSION: Our study revealed pertinent clinicoradiological correlations between HRQOL and MRI parameters in our cohort