Symptoma

CARASIL

Carasil Syndrome

A 24-year-old man with a history of chronic back pain presented with recurrent ischemic strokes. [ncbi.nlm.nih.gov]

Organizer The 8th International Congress on Vascular Dementia Place of Presentation アテネ ギリシャ Related Report [nrid.nii.ac.jp]

The first white case was reported in 2010 in a patient of Spanish ancestry. 5 Since then, only 5 cases, including the present 2, have been published. [stroke.ahajournals.org]

  • Muscle Weakness

    The deep tendon reflexes in her lower limbs were brisk and there was mild muscle weakness in the proximal lower extremities. An MRI revealed diffuse subcortical white matter lesions. [jnnp.bmj.com]

  • Osteoporosis

    Some may suffer from disk herniations, nodular thickening, and severe spondylitis deformans with osteoporosis. Several cases have shown lumbago without any radiological abnormalities. [orpha.net]

  • Mid Back Pain

    Attacks of severe lower and mid back pain usually occur between the ages of 20-45. Some may suffer from disk herniations, nodular thickening, and severe spondylitis deformans with osteoporosis. [orpha.net]

  • Alopecia

    The in vitro assay for TGFp repressor activity of HTRA1 implied that the appearance of CARASIL-associated alopecia was independent of TGFβ repressor activity. [keio.pure.elsevier.com]

    Examination showed alopecia, spastic tetraparesis, dysarthria and emotional instability. [scielo.br]

    CARASIL is characterized by early adulthood onset of subcortical infarcts, cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost exclusively reported in the Asian population. [ncbi.nlm.nih.gov]

  • Confusion

    The authors suggest that CARASIL be referred to as 'Maeda syndrome' or 'CARASIL (Maeda syndrome)' to avoid confusion with CADASIL. [ncbi.nlm.nih.gov]

    Symptoms of the conditions include: Decreased mental ability (thinking, understanding) Changes in behavior Changes in personality Confusion The most common symptoms specific to CADASIL are migraine headaches and repeated strokes that progress to dementia [cedars-sinai.edu]

    It should not be confused with its autosomal dominant counterpart, CADASIL. Autosomal recessive inherited diseases are usually more severe than autosomal dominant genetic disorders and CARASIL is no exception to this general rule. [radiopaedia.org]

  • Hyperreflexia

    Neurological symptoms include pseudobulbar palsy, hyperreflexia, vestibular symptoms, and ophthalmoplegia. Cognitive deficits begin to appear around the age of 30-40 with the first manifestation being forgetfulness. [orpha.net]

    Examination showed ataxic gait, spastic paraparesis, generalized hyperreflexia, and bilateral Babinski’s sign. Figure 2. Probands’ sister. A, Cerebellar vermis hemorrhage on brain CT. [stroke.ahajournals.org]

    […] impairments. 0000726 Diffuse demyelination of the cerebral white matter 0007162 Diffuse white matter abnormalities 0007204 Dysarthria Difficulty articulating speech 0001260 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hyperreflexia [rarediseases.info.nih.gov]

  • Babinski Sign

    Examination showed ataxic gait, spastic paraparesis, generalized hyperreflexia, and bilateral Babinski’s sign. Figure 2. Probands’ sister. A, Cerebellar vermis hemorrhage on brain CT. [stroke.ahajournals.org]

  • Abnormal Gait

    […] small blood vessels in the brain leads to stroke and other impairments. 0000726 Diffuse demyelination of the cerebral white matter 0007162 Diffuse white matter abnormalities 0007204 Dysarthria Difficulty articulating speech 0001260 Gait disturbance Abnormal [rarediseases.info.nih.gov]

  • Abulia

    In advanced stages emotional incontinence, abulia and akinetic mutism develop. Patients are usually bedridden 10 years after disease onset but can live for 20-30 years with the illness. [orpha.net]

The third volume of Frontiers in Neurosurgery presents updated information on ischemic stroke treatment. The volume comprehensively covers the epidemiology, physiology, diagnosis and treatment modalities of stroke. [books.google.de]

[…] and prognosis As there are no causative treatment options, treatment focuses on the prevention of ischemic strokes. [radiopaedia.org]

Prognosis The prognosis is poor with the average duration of illness lasting 10 years. The documents contained in this web site are presented for information purposes only. [orpha.net]

HtrA1 expression and the prognosis of high-grade serous ovarian carcinoma: a cohort study using digital analysis. [Diagn Pathol. 2018] HtrA1 expression and the prognosis of high-grade serous ovarian carcinoma: a cohort study using digital analysis. [ncbi.nlm.nih.gov]

[…] with or without intervertebral space narrowing, located in the cervical and/or thoracolumbar spine typical location upper lumbar regions (which is in some contradiction to the sporadic spondylosis) kyphosis elbow or knee osteoarthritis Treatment and prognosis [radiopaedia.org]

The role of genetic factors in SVD etiology is well established and a number of Mendelian forms, including CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) and CARASIL (cerebral autosomal recessive arteriopathy [ingentaconnect.com]

Etiology CARASIL is caused by a mutation in the HTRA1 gene, encoding the HtrA serine peptidase 1 protein (HTRA1) which represses signaling by transforming growth factor (TGF)-beta family members. [orpha.net]

this suggests, that this polimorphysm is the sought-after functional variant with relevance in AMD etiology in 10q26 locus. [amdbook.org]

Contents Definition. 1 Etymology. 2 Prevalence. 2 Etiology. 2 Pathophysiology. 2 Signs and Symptoms 3 Cardinal symptoms of CARASIL. 3 Prognosis 4 Diagnosis 4 Differential diagnosis 4 Treatment 4 Homoeopathic treatment 4 Short repertory of CARASIL. 5 Bibliography [homeopathyworldcommunity.ning.com]

Secular trends in stroke epidemiology, risk factors, and intermediate markers (including carotid ultrasound, brain MRI and circulating biomarkers) are presented. [books.google.com]

This review summarizes the historical background, epidemiology, characteristic clinical findings, neuroimaging, and clinical perspectives after the gene identification of this disorder. [jstage.jst.go.jp]

Gain fresh perspectives and up-to-date insights from the world’s leading authorities on the pathophysiology, diagnosis, and management of stroke. [books.google.ro]

For developing vessel-oriented treatment, it will be benefit to uncover the pathophysiological link between the causative genes, NOTCH3 (CADASIL) and HTRA1 (CARASIL), and vessel pathology. Address correspondence to Dr. [sasappa.co.jp]

Contents Definition. 1 Etymology. 2 Prevalence. 2 Etiology. 2 Pathophysiology. 2 Signs and Symptoms 3 Cardinal symptoms of CARASIL. 3 Prognosis 4 Diagnosis 4 Differential diagnosis 4 Treatment 4 Homoeopathic treatment 4 Short repertory of CARASIL. 5 Bibliography [homeopathyworldcommunity.ning.com]

This important book is an essential reference to physicians interested in more effective primary prevention of stroke. [books.google.com]

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