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. [ahajournals.org]

[…] dementia not infrequently, symptomatic epilepsy (secondary to infarctions) relapsing severe low back pain and deforming spondylosis (present in roughly 80% of patients, notably early onset) Macroscopic appearance Shows cerebral arteriosclerotic changes [radiopaedia.org]

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]

• Resistant Hypertension

  CARASAL, another autosomal dominant vasculopathy is characterized by ischemic or hemorrhagic strokes, therapy-resistant hypertension, and mid-frequency hearing loss. [annalsofian.org]

• Alopecia

  Although alopecia occurs in most cases and develops before the onset of neurological symptoms, some cases without alopecia have been reported. Causes CARASIL is caused by mutations of the HTRA1 gene. [rarediseases.org]

  Spondylosis and alopecia are seen in a minority of individuals with HTRA1-CSVD. [ncbi.nlm.nih.gov]

  Before 18 years of age, he had developed severe alopecia with male-pattern baldness. [n.neurology.org]

  During adolescence, he developed progressive alopecia with male-pattern baldness (Figure 1C). [ahajournals.org]

  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]

• 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]

• 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]

• Emotional Outbursts

  Patients have difficulty chewing, swallowing and demonstrate slurred speech (often initial presentation) as well as abnormal behavioral symptoms such as inappropriate emotional outbursts of uncontrolled laughter or weeping etc. [ncbi.nlm.nih.gov]

• Urinary Urgency

  The proband (II-3) was a 34-year-old man who in 2006 presented to the Neurology Department because of unsteady gait, urinary urgency, and slurred speech. He had a history of 150-pack-year cigarette smoking and alcohol and cocaine abuse for 8 years. [n.neurology.org]

• Hyperreflexia

  Hyperreflexia MedGen UID: 57738 •Concept ID: C0151889 • Finding Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. [ncbi.nlm.nih.gov]

  The examination disclosed severe cognitive impairment with dysexecutive syndrome, spatial and temporal disorientation, comprehension deficit, dysarthria, spastic paraparesis, hyperreflexia, and bilateral Babinski’s sign. [ahajournals.org]

  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]

  […] dementia [ more ] 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

  Babinski sign MedGen UID: 19708 •Concept ID: C0034935 • Finding Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. [ncbi.nlm.nih.gov]

  The examination disclosed severe cognitive impairment with dysexecutive syndrome, spatial and temporal disorientation, comprehension deficit, dysarthria, spastic paraparesis, hyperreflexia, and bilateral Babinski’s sign. [ahajournals.org]

  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]

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [rarediseases.info.nih.gov]

• 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]

• Abnormal Gait

  0007204 Dysarthria Difficulty articulating speech 0001260 Gait disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Hyperreflexia Increased reflexes 0001347 Leukoencephalopathy 0002352 Low back pain 0003419 Progressive encephalopathy [rarediseases.info.nih.gov]

• Akathisia

  […] constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia [ncbi.nlm.nih.gov]

Extensive workup for young stroke etiology yielded negative results. These included fasting blood sugar, lipid profile, serum homocysteine, ANA, APLA, immunoline, HIV, S.VDRL, EKG, Echo heart, and Holter monitoring. [annalsofian.org]

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

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]

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]

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]

[…] 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]

Gene References into Functions Nuclear downregulation of HtrA1 is associated with a better prognosis in women with high grade serous ovarian carcinoma. [cusabio.com]

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]

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

Extensive workup for young stroke etiology yielded negative results. These included fasting blood sugar, lipid profile, serum homocysteine, ANA, APLA, immunoline, HIV, S.VDRL, EKG, Echo heart, and Holter monitoring. [annalsofian.org]

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.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]

Another goal of management is to prevent the onset of dementia symptoms. Genetic counseling is also an important part of primary care. [radiopaedia.org]

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