Analysis of pedigrees The pedigree of an Italian family from the new group is presented in figure 4. Five members carried mutation COL4A1 p. G1369R and presented with very varied clinical phenotypes. [ncbi.nlm.nih.gov]

Congenital Cephalic Disorders In addition to porencephaly there can be other forms of damage to the brain present at birth. [rarediseases.org]

Here we report a family in which three siblings presented severe hypermetropia and porencephaly. Probands' father had severe hypermetropia and bilateral cataracts. [frontiersin.org]

Histone deacetylase inhibitors EP1929306A4 (fr) * 2005-09-01 2009-11-11 Precision Therapeutics Inc Tests de chimiosensibilite faisant appel a des cellules tumorales presentant des caracteristiques phenotypiques persistantes EP1775590A1 (fr) * 2005-10- [patents.google.com]

• Asymptomatic

  (D) III- 3–Brain MRI showed small asymptomatic lesions in white matter. No microbleeds or cystic cavities were found. [frontiersin.org]

  Mosaic individuals are likely less severely affected, or even asymptomatic, because they have many cells that secrete COL4A1 normally and that can compensate for those cells that cannot. [rarediseases.org]

  The pedigree in figure 4 also highlights that asymptomatic carriers (nos. 33/c and 33/e) can precede severe phenotypes. [ncbi.nlm.nih.gov]

• Seizure

  Seizure types included focal-onset seizures, epileptic spasms, and generalized tonic-clonic seizures without known focal onset. Mean age at seizure onset was 15.4 (SD ± 26.4) months. [ncbi.nlm.nih.gov]

  Some affected individuals may develop weakness or paralysis of one side of the body (hemiparesis or hemiplegia) and have seizures. [rarediseases.org]

  Therapeutic Intervention One patient (IV-3) was treated for spasticity and seizures with valproic acid. Lenses corrected for hypermetropia. [frontiersin.org]

• Dysarthria

  Patient 28 (COL4A1 p.G1207V), aged 16 years at last observation, had severe language impairment with dysarthria, language automatism, and left spastic hemiparesis. Brain MRI showed right fronto-parietal schizencephaly. No seizures were reported. [ncbi.nlm.nih.gov]

Clinical Testing and Workup Advanced imaging techniques can include computerized tomography (CT) scanning and magnetic resonance imaging (MRI). [rarediseases.org]

There are no standardized treatment protocols or guidelines for affected individuals. Due to the rarity of the disease, there are no treatment trials that have been tested on a large group of patients. [rarediseases.org]

RTVP based compositions and methods for the treatment of prostate cancer US20050187153A1 (en) * 2001-06-08 2005-08-25 Baylor College Of Medicine RTVP based compositions and methods for the treatment of prostate cancer, autoimmunity and infectious disease [patents.google.com]

Yet, as for all COL4A1 mutations, no specific treatment is currently available, and, due to the variable penetrance, adapted follow-up is challenging. [frontiersin.org]

Drug resistance was reported in 24/36 (66.6%); 8 patients (22.2%) had a “good response” to treatment. No single drug stood out for efficacy data (table 3a/b, doi.org/10.5061/dryad.gj58t0v). Three patients had surgical treatment for epilepsy. [ncbi.nlm.nih.gov]

Several factors including the small number of identified cases, the lack of large clinical studies, and the possibility of other genes or factors influencing the disorder make it challenging to develop a complete picture of associated symptoms and prognosis [rarediseases.org]

Cell-based detection and differentiation of disease states AU2002254524A1 (en) * 2001-04-06 2002-10-21 The Government Of The United States Of America, Represented By The Secretary, Department Of Health A Use of semenogelin in the diagnosis, prognosis [patents.google.com]

Milder presentations are likely underdiagnosed, due to limited awareness of the full spectrum of neurologic presentations, such that clinicians (in particular those seeing adults) may suspect COL4A1/2 etiology only in the most severe cases. [ncbi.nlm.nih.gov]

Pharmaceutical composition for treatment and/or prevention of cancer US9273130B2 (en) 2012-02-21 2016-03-01 Toray Industries, Inc. [patents.google.com]

Drugs that prevent irregular heartbeats (anti-arrhythmic medications) are used to treat supraventricular arrythmia. Surgery or endovascular therapy can be used to treat intracranial hemorrhage. [rarediseases.org]

Cesarean delivery for pregnancies with fetus at risk for a COL4A1-related disorder is recommended to prevent brain vascular injury attributable to birth trauma during delivery (6). [frontiersin.org]