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CARASIL

Carasil Syndrome


Presentation

  • The medial smooth muscle cells are completely lost, and intense adventitial fibrosis is present.[ncbi.nlm.nih.gov]
  • A 24-year-old man with a history of chronic back pain presented with recurrent ischemic strokes.[ncbi.nlm.nih.gov]
  • […] low back pain. [1] The disease is rare and has only been diagnosed in about 50 patients, mostly of Japanese descent but few of Chinese [2] and Spanish descent. [3] There is currently no cure for CARASIL. [4] Signs and symptoms [ edit ] Patients that present[en.wikipedia.org]
  • CARASIL is caused by mutations (presently n   10) in high-temperature requirement. A serine peptidase 1 (HTRA1) gene, which result in reduced function of HTRA1 as repressor of transforming growth factor-β (TGF β) -signaling.[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]
Intravenous Drugs
  • Stroke Treatment involves extensive intravenous drug administration. Several new drugs with long lasting efficacy are now being tested in randomized clinical trials.[books.google.de]
Painter
  • Bristol , TN 37620 179,000 N/A 3 1,851 148,540 204 Parkway Rd , Bristol , TN 37620 289,100 3 3 2,614 69,260 6128 Old Jonesboro Rd , Bristol , TN 37620 310,500 N/A 4 3,080 19,868 6054 Old Jonesboro Rd , Bristol , TN 37620 273,700 4 2 3,080 21,875 204 Painter[realtor.com]
Amyloidosis
  • Cerebral amyloid angiopathy is unrelated to generalized AMYLOIDOSIS. Amyloidogenic peptides in this condition are nearly always the same ones found in ALZHEIMER DISEASE.[bioportfolio.com]
Ptosis
  • REQUEST TO REMOVE Recently added - repository.up.ac.za Mitochondrial neurogastrointestinal encephalopathy (MNGIE), usually an autosomal-recessive inherited condition, causes gastrointestinal dysmotility, ophthalmoplegia, ptosis, leukoencephalopathy and[tuugo.co.za]
Thin Skin
  • Acronym CARASIL Synonyms CARASIL syndrome Cerebrovascular disease with thin skin, alopecia, and disk disease Maeda syndrome Progressive subcortical vascular encephalopathy Subcortical vascular encephalopathy, progressive Any medical or genetic information[uniprot.org]
  • Title Other Names: CARASIL; Maeda syndrome; Subcortical vascular encephalopathy, progressive; CARASIL; Maeda syndrome; Subcortical vascular encephalopathy, progressive; Cerebrovascular disease with thin skin, alopecia, and disc disease See More Categories[rarediseases.info.nih.gov]
  • skin, alopecia, and disc disease;cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; maeda syndrome.[mendelian.co]
Sparse Hair
  • Additional important symptoms that have been associated with CARASIL include sparse hair (alopecia) and degenerative change of the spinal column (spondylosis).[rarediseases.org]
Back Pain
  • She experienced recurrent transient ischemic attacks, hair loss, and low back pain. Brain magnetic resonance imaging showed multiple lacunar infarctions, diffuse leukoencephalopathy, and multiple microbleeds of white matter.[ncbi.nlm.nih.gov]
  • A 28-year-old male proband and his brother experienced recurrent stroke, hair loss and low back pain.[ncbi.nlm.nih.gov]
  • In addition, gait disturbance, low back pain and alopecia are characteristic features. CARASIL is caused by mutations (presently n   10) in high-temperature requirement.[ncbi.nlm.nih.gov]
  • A 24-year-old man with a history of chronic back pain presented with recurrent ischemic strokes.[ncbi.nlm.nih.gov]
  • Other characteristic features of CARASIL include premature hair loss (alopecia) and attacks of low back pain. The hair loss often begins during adolescence and is limited to the scalp.[ghr.nlm.nih.gov]
Muscle Cramp
  • COL4A1 mutations and hereditary angiopathy, nephropathy, aneurysms, and muscle cramps. N Engl J Med. 2007; 357 :2687–95. [ PubMed : 18160688 ] Singhal S, Bevan S, Barrick T, Rich P, Markus HS.[ncbi.nlm.nih.gov]
Muscle Spasm
  • Other symptoms may include: Increased muscle tone Stroke episodes Muscle spasms Slurred speech Loss of bladder control Worsening movement problems Difficulty controlling facial muscles and speaking (pseudobulbar palsy) Other symptoms that are associated[cedars-sinai.edu]
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]
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]
  • […] 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]
  • 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]
Tremor
  • Fogel Elsevier Health Sciences, 06.11.2013 - 281 Seiten 0 Rezensionen This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome[books.google.de]
  • Fogel Elsevier Health Sciences , 6 nov. 2013 - 281 pagini 0 Recenzii This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome[books.google.ro]
  • Fogel Elsevier Health Sciences, ٠٦‏/١١‏/٢٠١٣ - 281 من الصفحات 0 مراجعات This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome[books.google.com]
Slurred Speech
  • Other symptoms may include: Increased muscle tone Stroke episodes Muscle spasms Slurred speech Loss of bladder control Worsening movement problems Difficulty controlling facial muscles and speaking (pseudobulbar palsy) Other symptoms that are associated[cedars-sinai.edu]
  • A 50-year-old Portuguese man presented with a 4-year-history of slurred speech, behavioral changes and tetraparesis with sphincter disturbances. Medical history was positive for chronic lumbar pain with spondylosis and two stroke-like episodes.[scielo.br]
  • Symptoms that may occur in individuals with CARASIL include increasing muscle tone, slurred speech, stiff movements of the legs (spasticity), gait disturbances, loss of bladder control (urinary incontinence), and impairment of swallowing due to the bilateral[rarediseases.org]
Spastic Gait
  • CARASIL normally manifests between the ages of 20 and 30 with a spastic gait disorder. As the disease progresses, patients show signs of progressive changes in personality, pseudobulbar paralysis, and cognitive decline.[mgz-muenchen.de]
  • Symptoms that may occur in individuals with CARASIL include increasing muscle tone, slurred speech, stiff movements of the legs (spasticity), gait disturbances, loss of bladder control (urinary incontinence), and impairment of swallowing due to the bilateral[rarediseases.org]

Workup

Ischemic Changes
  • Each of the small arterial changes is intense in the cerebral medullary and leptomeningeal arteries, leading to multifocal, confluent, or diffuse ischemic changes in the cerebrum.[ncbi.nlm.nih.gov]

Treatment

  • 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]
  • Access the comprehensive, expert clinical guidance you need to recognize the clinical manifestations of stroke, use the latest laboratory and imaging studies to arrive at a diagnosis, and generate an effective medical and surgical treatment plan.[books.google.de]

Prognosis

  • 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]
  • Articles about the HTRA1 gene 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]

Etiology

  • 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]
  • AMD susceptibility is linked to both genetic and environmental factors, although its precise etiology remains elusive.[molvis.org]

Epidemiology

  • Secular trends in stroke epidemiology, risk factors, and intermediate markers (including carotid ultrasound, brain MRI and circulating biomarkers) are presented.[books.google.de]
  • The volume comprehensively covers the epidemiology, physiology, diagnosis and treatment modalities of stroke.[books.google.de]
Sex distribution
Age distribution

Pathophysiology

  • Gain fresh perspectives and up-to-date insights from the world’s leading authorities on the pathophysiology, diagnosis, and management of stroke.[books.google.de]
  • 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]
  • From a pathophysiological view, the genes involved in lipid metabolism, especially the apolipoprotein E ( APOE ), have been the focus of genetic research over the last two decades.[bmcmedicine.biomedcentral.com]

Prevention

  • This important book is an essential reference to physicians interested in more effective primary prevention of stroke.[books.google.de]
  • Stay up to date on hot topics such as mechanisms of action of commonly used drugs, neuronal angiogenesis and stem cells, basic mechanisms of spasm and hemorrhage, prevention of stroke, genetics/predisposing risk factors, and much more.[books.google.de]

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