PubMed Health⌕ Search

Biomedical subjects

Ignacio Pascual-Castroviejo

Publications and source records attributed to Ignacio Pascual-Castroviejo.

6 recordsLinked to original sources
PubMed2006

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.

OBJECTIVE: Joubert syndrome (JS) is a recessively inherited developmental brain disorder with several identified causative chromosomal loci. It is characterized by hypoplasia of the cerebellar vermis and a particular midbrain-hindbrain "molar tooth" sign, a finding shared by a group of Joubert syndrome-related disorders (JSRDs), with wide phenotypic variability. The frequency of mutations in the first positionally cloned gene, AHI1, is unknown. METHODS: We searched for mutations in the AHI1 gene among a cohort of 137 families with JSRD and radiographically proven molar tooth sign. RESULTS: We identified 15 deleterious mutations in 10 families with pure JS or JS plus retinal and/or additional central nervous system abnormalities. Mutations among families with JSRD including kidney or liver involvement were not detected. Transheterozygous mutations were identified in the majority of those without history of consanguinity. Most mutations were truncating or splicing errors, with only one missense mutation in the highly conserved WD40 repeat domain that led to disease of similar severity. INTERPRETATION: AHI1 mutations are a frequent cause of disease in patients with specific forms of JSRD.

Adaptor Proteins, Signal Transducing↗
PubMed2006

Diplegia due to transcranial knife-blade injury in a 20-month-old child.

Transcranial stab wounds are uncommon among both adults and adolescents and rarely occur in children, particularly when caused by another child. A 20-month-old girl was injured by a 3-year-old cousin, who introduced a knife blade into the brain through the left parietal region. The trajectory of the wound penetrated at least 5 cm, crossed the falx cerebri, and involved both motor cortical areas. The clinical sequela was a severe symmetric spastic diplegia.

Anti-Dyskinesia Agents↗
PubMed2005

Seizures of idiopathic generalized epilepsies.

Idiopathic generalized epilepsies (IGEs) comprise at least 40% of epilepsies in the United States, 20% in Mexico, and 8% in Central America. Here, we review seizure phenotypes across IGE syndromes, their response to treatment and advances in molecular genetics that influence nosology. Our review included the Medline database from 1945 to 2005 and our prospectively collected Genetic Epilepsy Studies (GENESS) Consortium database. Generalized seizures occur with different and similar semiologies, frequencies, and patterns, ages at onset, and outcomes in different IGEs, suggesting common neuroanatomical pathways for seizure phenotypes. However, the same seizure phenotypes respond differently to the same treatments in different IGEs, suggesting different molecular defects across syndromes. De novo mutations in SCN1A in sporadic Dravet syndrome and germline mutations in SCN1A, SCN1B, and SCN2A in generalized epilepsies with febrile seizures plus have unraveled the heterogenous myoclonic epilepsies of infancy and early childhood. Mutations in GABRA1, GABRG2, and GABRB3 are associated with absence seizures, while mutations in CLCN2 and myoclonin/EFHC1 substantiate juvenile myoclonic epilepsy as a clinical entity. Refined understanding of seizure phenotypes, their semiology, frequencies, and patterns together with the identification of molecular lesions in IGEs continue to accelerate the development of molecular epileptology.

Adolescent↗
PubMed2002

Congenital vascular malformations in childhood.

Congenital vascular malformations are an important group of vascular anomalies that occur very early in the pregnancy. Most of these malformations occur between the third and the seventh weeks of the embryonic development. Malformations can affect the arteries, veins, capillaries, and venous sinuses, involving an isolated vessel or a part of the vascular system. There are malformations that affect the vessel size or course, and others that show pathology of the wall anatomy of the vessel. Magnetic resonance angiography (MRA) is improving the study conditions of this pathology. Treatment of most of the vascular malformations--some of them giving clinical symptoms during adulthood--still constitutes a challenge.

Central Nervous System Vascular Malformations↗
PubMed2002

Cobb syndrome: case report.

We present a 7-year-old boy in whom cutaneous hemangioma and intramedullary and paraspinal arteriovenous malformations were associated. Magnetic resonance arteriography revealed the presence of the two arterovenous malformations, and the selective intercostal arteriography demonstrated that the intraspinal and paraspinal arteriovenous malformations were supplied by the same intercostal arteries. Rubbing the back was required to detect the cutaneous changes, which were only suspected by casual inspection.

Abnormalities, Multiple↗