-
Cerebrovascular Diseases 04/2013; 35(3):298-299. · 2.72 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: INTRODUCTION: White matter lesions seen on MR scan reflect small vessel disease of the brain; increasing age and high blood pressure are the main risk factors. In young patients without vascular risk factors, screening for CADASIL mutation has to be done. Our aim was to describe clinical as well as radiological features of a series of patients without NOTCH3 mutation with severe vascular leukoencephalopathy not explained by the presence of vascular risk factors. MATERIAL AND METHODS: Inclusion criteria were grade 3 leukoencephalopathy according to the Fazekas scale, age<70years at onset, and negative screening for NOTCH3 gene. Patients with severe vascular risk factors or atherosclerosis were excluded. Clinical and MRI findings were analysed. RESULTS: Eight patients (four men) were included, five did not have any vascular risk factor. Mean age at onset was 59.5years. Initial symptoms were progressive in six cases of eight cases. They consisted of astasia-abasia and progressively worsened; of note one patient died 4years after disease onset. Cerebral MRI disclosed marked atrophy in five patients out of eight, temporal lobe (two out of eight) and external capsule (five out of eight) involvement was moderate. Four patients did not have any other atherosclerosis lesion. Seven out of eight had no retinal microangiopathy. High blood pressure was identified in two patients. CONCLUSION: The identification of vascular leukoencephalopathy in young patients without any vascular risk factors should lead the clinician to perform a complete work-up to search for treatable conditions including high blood pressure. Patients with vascular leukoencephalopathy usually present with astasia-abasia. In this context, cerebral MRI, cannot perfectly discriminate between patients with CADASIL from those with acquired small-vessel disease of the brain so that sequencing of NOTCH3 gene exons 2-24 is recommended.
Revue Neurologique 02/2013; · 0.49 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Case report. A 55-year-old man with a history of hypertension, hypercholesterolemia, and tobacco use presented with sudden onset bilateral deafness, gait ataxia, and dysarthria. Clinical examination disclosed left-sided limb ataxia, bilateral gaze-evoked nystagmus, dysarthria, and bilateral hearing loss. Brain MRI showed a bilateral anterior inferior cerebellar artery (AICA) infarction (figure, A). Fluorodeoxyglucose PET scan ([(18)F] FDG PET) performed because of mild frontal syndrome (euphoria and decreased spontaneous activity) showed a mild cerebellar and prefrontal cortex hypometabolism (figure, B). He recovered after 1 month without sequelae. Five months later, he complained of apathy, poor motivation, and lack of interest in previous hobbies. Neuropsychological investigations disclosed a mild impairment of processing speed, alphabetic verbal fluency, attention and executive dysfunction such as difficulties in planning and disturbed mental flexibility; semantic and episodic memory and praxis were normal. An [(18)F] FDG PET control showed a severe bilateral cerebellar, frontal, temporal, and parietal hypometabolism (figure, B). Diffusion tensor MRI (DTI) study showed a decreased fractional anisotropy (FA) value in both middle cerebellar peduncles (right MCP: 0.31 ± 0.13; left MCP: 0.31 ± 0.14) whereas FA values in the superior cerebellar peduncles (SCP) and internal capsules were normal. As a consequence, tractography performed for these different fascicles showed normal corticospinal tracts and SCP whereas the number of streamlines was decreased for both MCP (figure, C). Four months later, behavioral and affective difficulties progressively normalized but executive dysfunction persisted. An [(18)F] FDG PET disclosed normalization of the metabolism at the level of the frontal, parietal, and temporal lobes whereas hypometabolism persisted at the level of the cerebellum and prefrontal/anterior cingulate areas (figure, B).
Neurology 12/2011; 78(1):69-70. · 8.31 Impact Factor
-
C Carra-Dalliere,
L Horzinski, X Ayrignac,
S Vukusic,
D Rodriguez,
F Mauguiere,
L Peter,
C Goizet,
F Bouhour,
C Denier, [......],
F Blanc,
J de Seze,
F Sedel,
A-M Guennoc,
E Sartori,
D Laplaud,
J-C Antoine,
A Fogli,
O Boespflug-Tanguy,
P Labauge
[show abstract]
[hide abstract]
ABSTRACT: The childhood ataxia with central nervous system hypomyelination-vanishing white matter syndrome (CACH-VWM) was first characterized in children (2-5 years) on clinical and MRI criteria: cerebellospastic signs associated with episodes of rapid deterioration following stress and extensive cavitatingleucoencephalopathy. Causative mutations were found in the five genes encoding the subunits of the eukaryotic initiation factor 2B (eIF2B), involved in protein synthesis and its regulation under cellular stresses. A broad clinical spectrum has been subsequently described from congenital to adult-onset forms leading to the concept of eIF2B-related disorders. Our aim was to describe clinical and brain magnetic resonance imaging characteristics, genetic findings and natural history of patients with adult-onset eIF2B-related disorders.
The inclusion criteria were based on the presence of EIF2B mutations and a disease onset after the age of 16 years. One patient with an asymptomatic diagnosis was also included. Clinical and MRI findings were retrospectively recorded in all patients. This multicentric study included 24 patients from 22 families.
A sex-ratio imbalance was noted (male/female=5/19). The mean age of onset was 30 years (range 12-62). Initial symptoms were neurologic (n=20), psychiatric (n=3) and ovarian failure (n=6). During follow-up (mean: 11 years, range 2-35 years), two patients died. Of the 22 survivors, 67% showed a decline in their cognitive functions and mean EDSS was 5.6 (range=0-9.5). One case remained asymptomatic. Stress worsened clinical symptoms in 33% of the patients. Magnetic resonance imaging findings consisted of cerebral atrophy (92%), extensive cystic leucoencephalopathy (83%), corpus callosum involvement (92%) and cerebellar (37%) T2-weighted hyperintensities. Most patients (83%) showed mutations in the EIF2B5 gene. The recurrent p.Arg113His-eIF2Be mutation was found at a homozygous state in 58% of the 24 eIF2B-mutated patients.
eIF2B-related disorder is probably underestimated as an adult-onset inherited leucoencephalopathy. Cerebral atrophy is constant, whereas the typical vanishing of the white matter can be absent. Functional and cognitive prognosis remains severe. Molecular diagnosis is facilitated for these forms by screening for the recurrent p.Arg113His-eIF2Be mutation.
Revue Neurologique 06/2011; 167(11):802-11. · 0.49 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: We described an overlap syndrome associating Miller Fisher syndrome (MFS) and acute inflammatory demyelinating polyradiculoneuropathy (AIDP). Furthermore, the patient presented unusual neurological manifestations including headache, T10 sensory level, urinary urgency, and gadolinium enhancement of the spinal roots. One year follow-up was characterized by clinical recovery and persistent high rates of anti-GQ1b, -GD1b and -GT1b antibodies. Our case suggests broad phenotype of persistent antigangliosides antibodies.
Acta neurologica Belgica 12/2009; 109(4):330-2. · 0.54 Impact Factor
-
D Sablot,
J-F Cassarini,
A Akouz,
J-M Benejean,
F Leibinger,
X Faillie,
E Vidry, X Ayrignac,
S Castro,
L Sinaya,
J-L Bertrand,
Y Garcia,
B Arnoud,
C Negre
[show abstract]
[hide abstract]
ABSTRACT: Intravenous recombinant tissue plasminogen activator (rt-PA) has approval for use despite of its authorization for treatment of ischemic stroke within the 3-hour time window in 2003, is rarely used in community hospital (CH). It therefore remains questionable if the positive results of the key studies conducted in specialized centers may be extended to community hospitals less specialized in the management of stroke.
We report the results of an observational cohort study including 39 patients treated with intravenous rt-Pa (according to the NINDS rt-PA stroke trail treatment protocol) at St Jean Hospital (Perpignan, France) between March 1, 2002 and August 31, 2005. Results are compared to those of the treated arm of the NINDS study.
1.2p.cent of ischemic stroke were treated with intravenous rt-Pa. Results are similar to those of the NINDS study: The outcome was favorable (modified Rankin score (mRS) with 0 or 1) for 44p.cent of the patients (as compared to 39p.cent in the NINDS study (X2 = 0.34; p = 0.5)) and there was no significant difference in term of death or outcome as assessed by mRS at 3 months (X2 = 0.09; p = 0.75 and X2 = 0.77; p = 0.75, respectively). No symptomatic hemmorrhagic transformation related to the use of rt-Pa was observed.
Our results indicate that rt-PA therapy for ischemic stroke may be as safe and effective in the setting of a community hospital as it is in specialized centers.
Revue Neurologique 12/2006; 162(11):1109-17. · 0.49 Impact Factor
-
[show abstract]
[hide abstract]
ABSTRACT: Anti-Ma2 antibodies belong to a family of onconeuronal antibodies that target proteins expressed in brain, testis and several tumors. Previously observed in patients presenting with limbic encephalitis, they seem to be associated with several other paraneoplastic syndromes. We report the case of a 73-year-old woman presenting sensory and motor neuropathy associated with non-small-cell lung cancer who had Ma2-antibodies.
Revue Neurologique 164(6-7):608-11. · 0.49 Impact Factor
-
D. Sablot,
J.-F. Cassarini,
A. Akouz,
J.-M. Benejean,
F. Leibinger,
X. Faillie,
E. Vidry, X. Ayrignac,
S. Castro,
L. Sinaya,
J.-L. Bertrand,
Y. Garcia,
B. Arnoud,
C. Negre
[show abstract]
[hide abstract]
ABSTRACT: IntroductionIntravenous recombinant tissue plasminogen activator (rt-PA) has approval for use despite of its authorization for treatment of ischemic stroke within the 3-hour time window in 2003, is rarely used in community hospital (CH). It therefore remains questionable if the positive results of the key studies conducted in specialized centers may be extended to community hospitals less specialized in the management of stroke.Methods
We report the results of an observational cohort study including 39 patients treated with intravenous rt-Pa (according to the NINDS rt-PA stroke trail treatment protocol) at St Jean Hospital (Perpignan, France) between March 1, 2002 and August 31, 2005. Results are compared to those of the treated arm of the NINDS study.Results1.2p.cent of ischemic stroke were treated with intravenous rt-Pa. Results are similar to those of the NINDS study: The outcome was favorable (modified Rankin score (mRS) with 0 or 1) for 44p.cent of the patients (as compared to 39p.cent in the NINDS study (X2=0.34 ; p=0.5)) and there was no significant difference in term of death or outcome as assessed by mRS at 3 months (X2=0.09 ; p=0.75 and X2=0.77 ; p=0.75, respectively). No symptomatic hemmorrhagic transformation related to the use of rt-Pa was observed.Conclusion
Our results indicate that rt-PA therapy for ischemic stroke may be as safe and effective in the setting of a community hospital as it is in specialized centers.
Revue Neurologique 162(11):1109-1117. · 0.49 Impact Factor
