No abstract available.
Amyotrophic Lateral Sclerosis ; CADASIL

No abstract available.
Amyotrophic Lateral Sclerosis ; CADASIL

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare but the most common genetic cause of ischemic strokes. Very little is known about perioperative implications of this syndrome. We present a case of anesthesia for a patient with CADASIL, considering protection from further cerebral ischemia.
Anesthesia ; Brain Ischemia ; CADASIL ; Humans ; Stroke

Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy is an inherited small vessel diseases caused by mutations in the Notch3 gene. In Caucasian patients, the average life expectancy was 65 years for men and 71 years for women. However, this does not seem to be the case in patient with R544C mutation, which is a rare mutation in Caucasian patients. Herein we report two patients with R544C mutation who were older than 90 years who were not previously reported.
CADASIL ; Female ; Humans ; Leukoencephalopathies ; Life Expectancy ; Male

BACKGROUND AND PURPOSE: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited microangiopathy caused by mutations in the Notch3 gene. Although previous studies have shown an association between lacunar infarction and cognitive impairment, the relationship between MRI parameters and cognition remains unclear. In this study we investigated the influence of MRI parameters on cognitive impairment in CADASIL. METHODS: We applied a prospective protocol to 40 patients. MRI analysis included the normalized volume of white-matter hyperintensities (nWMHs), number of lacunes, and number of cerebral microbleeds. Cognition was assessed with the aid of psychometric tests [Mini-Mental State Examination (MMSE), Alzheimer's Disease Assessment Scale-cognition (ADAS-cog), Trail-Making Test, and Stroop interference (Stroop IF)]. RESULTS: A multivariate regression analysis revealed that the total number of lacunes influenced the performance in the MMSE, ADAS-cog, and Stroop IF, while nWMHs had a strong univariate association with ADAS-cog and Stroop IF scores. However, this association disappeared in the multivariate analysis. CONCLUSIONS: These findings demonstrate that the number of lacunes is the main predictive factor of cognitive impairment in CADASIL.
Alzheimer Disease ; CADASIL ; Cognition ; Humans ; Leukoencephalopathies ; Prospective Studies ; Psychometrics ; Stroke, Lacunar

CADASIL(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is a rare genetic disease inherited in an autosomal dominant manner, which is characterized by migraine, strokes, mood disorders, and progressive cognitive disorders. With the aid of skin biopsy and electron microscopic examination, recently we have confirmed a diagnosis of CADASIL in a patient from neurology department. Although CADASIL does not present any cutaneous manifestations, dermatologists need to be aware of this rare neurologic disorder because characteristic electron microscopic findings on a skin biopsy specimen are diagnostic.
Biopsy* ; CADASIL* ; Diagnosis ; Humans ; Microscopy, Electron ; Migraine Disorders ; Mood Disorders ; Nervous System Diseases ; Neurology ; Skin* ; Stroke

BACKGROUND: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited arteriopathy caused by mutation in the Notch 3 gene. Cognitive impairment, which is the second most frequent clinical manifestation, worsens with recurrent stroke. Comparison studies between the pre- and poststroke phases in CADASIL have not yet been performed in Asia. Here we describe the clinical characteristics of both the preand poststroke phases and identified the risk factors for stroke in CADASIL. METHODS: Fifty-three consecutive patients were investigated. Patients were divided into two groups depending on the presence (poststroke group; n=31) or absence (prestroke group; n=22) of clinically overt stroke. All patients underwent an MRI scan with the same protocol. Cognition was assessed by applying detailed neuropsychological tests. RESULTS: The poststroke group exhibited an increase in lacunae and cerebral microbleeds. The memory scores on the Alzheimer's Dementia Assessment Scale cognitive subscale and the number of correct Stroop color-naming scores were lower in the poststroke group than in the prestroke group. Hypertension was more prevalent in the poststroke group, while chronic headache was more prevalent in the prestroke group. CONCLUSIONS: These findings suggest that cerebral microbleeds as well as lacunae predict the risk of clinically overt stroke, which leads to a worsening of frontal-lobe function in CADASIL.
Asia ; CADASIL ; Cognition ; Dementia ; Headache Disorders ; Humans ; Hypertension ; Magnetic Resonance Imaging ; Memory ; Risk Factors ; Stroke

To analyze the clinical and image features for 12 patients of cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL).
 Methods: A total of 12 CADASIL patients were collected in Xiangya Hospital of Central South University from January 2013 to December 2018. The clinical manifestation, risk factors, MRI imaging data and NOTCH3 mutations were analyzed retrospectively.
 Results: The mean age of 12 patients was (47.25±9.49) years. The clinical manifestation was most common in cognitive impairment (75%) and stroke events (58.3%), and 2 cases showed cerebral hemorrhage. Migraine was only seen in 25% patients. All MRI showed white matter hyperintensity (WMH), lacune and enlarged perivascular space (PVS). WMH mainly occurred in the frontal parietal lobe (100%), temporal lobe (83.3%), external capsule (66.7%), occipital lobe (41.6%), callosum 41.6% and the temporal pole (33.3%), while lacune mainly appeared in frontal lobe (91.6%), parietal lobe(83.3%), temporal lobe(66.7%), basal ganglia (66.7%), brain stem (41.6%), occipital lobe (33.3%), cerebellum (8.3%). Enlarged PVS located in the basal ganglia (100%), partly under the cortex (45.4%). WMH of the patient with intracerebral hemorrhage was mild (Fezakas score 1-2), which was not found in external capsule. 16.7% of the patients had intracranial arterial stenosis. In 12 patients, 8 different Notch3 mutations were detected. The c1013G>c p.(Cys338Ser) located in exon 6, which was a new pathogenic mutation of CADASIL.
 Conclusion: The patients with cerebral hemorrhage have mild WMH and specific genotype, indicating that the clinical characteristics of CADASIL with cerebral hemorrhage may be related to image features and genotype.
Adult ; CADASIL ; Cerebral Infarction ; Humans ; Leukoencephalopathies ; Middle Aged ; Retrospective Studies ; Temporal Lobe

Persistent aura without infarction is defined as an aura persisting for 1 week or more without evidence of infarction on neuroimaging. It is difficult to differentiate persistent visual aura without infarction from occipital lobe epilepsy. We report a Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy patient with prosopometamorphopsia and visual field defect improved by valproic acid. We also review ambiguity between visual aura in migraine and occipital lobe epilepsy.
CADASIL ; Epilepsies, Partial ; Epilepsy ; Humans ; Infarction ; Migraine Disorders ; Neuroimaging ; Valproic Acid ; Visual Fields

BACKGROUND: Cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an inherited small vessel disease caused by mutations in the Notch3 gene. Lacunes may reflect occlusive type microangiopathy. However, cerebral microbleeds (CMBs) may reflect bleeding-prone microangiopathy. In the present study, we aimed to determine whether hypertension influence the distribution and severity of lacunes and CMBs in patients with CADASIL. METHODS: The study population comprised 85 patients who underwent brain MRI, including T1-weighted image, susceptibility weighted image (SWI), and fluid attenuated inversion recovery (FLAIR) image. The patients were divided into two groups depending on the presence or absence of hypertension. In the first, demographic factors, and MRI findings were compared between CADASIL patients with and without hypertension. In the second, we undertook a region by region comparison of number of patients with lacunes or CMBs. RESULTS: The hypertensive group showed a higher incidence of CMBs in lobar area (p<0.001) and basal ganglia (p=0.014). CMBs tend to be observed more frequently in the thalamus (p=0.058), brainstem (p=0.057), and cerebellum (p=0.052) in the hypertensive group. However, hypertensive group demonstrated a higher incidence of lacunes just in lobar area (p=0.040). CONCLUSIONS: Our findings suggest that CMBs may be a more sensitive neuroimaging marker of hypertensive arteriopathy in patients with CADASIL.
Basal Ganglia ; Brain ; Brain Stem ; CADASIL* ; Cerebellum ; Demography ; Humans ; Hypertension* ; Incidence ; Leukoencephalopathies ; Magnetic Resonance Imaging ; Neuroimaging ; Thalamus