Spontaneous cerebellar hemorrhage associated with a novel Notch3 mutation

  title={Spontaneous cerebellar hemorrhage associated with a novel Notch3 mutation},
  author={Sonal Mehta and Prachi Mehndiratta and Cathy Sila},
  journal={Journal of Clinical Neuroscience},
A 55-year-old woman with no significant medical history presented with an acute onset severe headache. A non-enhanced CT scan of the head revealed a right cerebellar hemorrhage. Investigation for etiology of the hemorrhage included an MRI showing extensive subcortical ischemic disease and also several previous microbleeds. The MRI appearance and absence of any other etiology for hemorrhage prompted work up for cerebral autosomal dominant arteriopathy with subcortical infarcts and… Expand
Shifting the CARASIL Paradigm: Report of a Non-Asian Family and Literature Review
The need of considering this entity in the differential diagnosis of cerebral small-vessel disease in young patients, even in the non-Asian populations is highlighted. Expand
Successful Use of Intravenous Tissue Plasminogen Activator as Treatment for a Patient with Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A Case Report and Review of Literature.
There is slight evidence against the use of intravenous tissue plasminogen activator for CADASIL patients who present with stroke-like symptoms but nothing is concrete. Expand
Intracerebral hemorrhage in CADASIL.
Intracerebral hemorrhage represents a possible yet uncommon manifestation of CADASIL and should be considered as a possibility in patients with ICH associated with leukoencephalopathy and microbleeds, even in the absence of other clinical symptoms. Expand
SQSTM1 gene as a potential genetic modifier of CADASIL phenotype
Two CADASIL siblings with a particularly aggressive clinical phenotype characterized by early-onset stroke, gait disturbances and/or dementia, severe emotional dysregulation, and dysexecutive syndrome are described together with a severe white matter burden on MRI. Expand
Functions and mechanisms of microglia/macrophages in neuroinflammation and neurogenesis after stroke
This review summarizes recent progress concerning the mechanisms involved in brain damage, repair and regeneration related to microglia/macrophage activation and phenotype transition after stroke and argues that future translational studies should be targeting multiple key regulating molecules to improve brain repair. Expand


[Cadasil: a case with molecular diagnosis].
A 40-year-old woman who underwent surgery for a left temporal-parietal cavernous angioma, with aphasia as the only symptom, is studied, the first case of CADASIL diagnosed by molecular DNA test in this country and a nucleotide substitution in position 583 in exon 4 of gene Notch3 was detected. Expand
[Report of a patient with CADASIL having a novel missense mutation of the Notch 3 gene--association with alopecia and lumbar herniated disk].
The clinical symptoms, the family history and the MRI findings suggested the diagnosis of CADASIL, but the patient also showed alopecia and lumbar herniated disk, both are characteristic features of cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL). Expand
CADASIL: pathogenesis, clinical and radiological findings and treatment.
  • C. André
  • Medicine
  • Arquivos de neuro-psiquiatria
  • 2010
The variable clinical presentation of CADASIL should lead physicians to actively pursue the diagnosis in many settings and to more thoroughly investigate family history in first degree relatives. Expand
Intracerebral hemorrhages in CADASIL
It was found that 25% of the symptomatic patients with CADASIL had ICHs, and their development was closely related to the number of CMBs, which predicted an increased risk of ICH. Expand
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL): from discovery to gene identification.
  • T. Fukutake
  • Medicine
  • Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association
  • 2011
CARASIL-associated mutant HTRA1 exhibited decreased protease activity and failed to repress transforming growth factor-β family signaling, indicating that the increased signaling causes arteriopathy in CARASIL. Expand
Cerebral microbleeds in CADASIL
Patients with CADASil have an age-related increased risk of intracerebral microbleeds, which implies that they may have an increased risk for ICH, which should be taken into account in CADASIL diagnosis and patient management. Expand
Superficial siderosis of the central nervous system: magnetic resonance imaging and pathological correlation. Case report.
It is concluded that superficial siderosis may accompany encephalocele repair and this is believed to be the first report in the literature of superficial sidersosis of the central nervous system to correlate in vivo MR images with autopsy results. Expand
Superficial siderosis of the CNS: MR diagnosis and clinical findings.
Clinical and neuroradiologic findings of superficial siderosis of the CNS due to chronic subarachnoid bleeding of unknown origin are reported, and MR demonstrates this abnormality to better advantage. Expand
Superficial siderosis: associations and therapeutic implications.
The role of multimodality imaging in evaluation of superficial siderosis and the therapeutic implications of identified associations are discussed. Expand
Superficial siderosis of the central nervous system
SummaryThe course of a patient suffering from superficial siderosis of the central nervous system for 37 years is presented and diagnostic and therapeutic approaches are evaluated. The syndrome isExpand