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C Cervera

Publications and source records attributed to C Cervera.

At least 37 records · Page 2Linked to original sources
PubMed1999

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact.

We have identified a novel missense mutation in the myophosphorylase gene in a Spanish patient with McArdle's disease. The patient was homozygous for a T-to-C transition at codon 115 (L115P) in exon 3, which changed an encoded leucine (CUG) to a proline (CCG). This is the first mutation to be described in exon 3 and in a protein domain related to dimer contact. These data further emphasize the importance of private mutations in McArdle's disease, some of which are associated with specific ethnic groups.

Glycogen Phosphorylase, Muscle Form↗
PubMed1999

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.

Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35, lead to recessive and dominant myotonia congenita. We report four novel mutations identified in this gene, after clinical, electromyographic, and genetic studies performed on 13 unrelated families. Two of the four mutations (2512insCTCA and A218T) were identified in families with Thomsen's disease, one (Q658X) in a family with Becker's disease, and the fourth (R669C) in a presumably sporadic patient with the Becker phenotype. Although identification of the mutations allows us to establish some genotype/phenotype correlations, this does not wholly account for the clinical heterogeneity and the inheritance patterns of the disease.

Chloride Channels↗
PubMed1999

The value of chest roentgenography in the diagnosis of pneumothorax after thoracentesis.

PURPOSE: We sought to assess the yield of chest roentgenography for the detection of pneumothorax among hospitalized patients with pleural effusion who have undergone diagnostic or therapeutic thoracentesis. SUBJECTS AND METHODS: We performed a prospective study of 506 thoracentesis procedures in 370 patients. After the procedure, each operator filled out a note recording patient data and the characteristics of the thoracentesis. A chest radiograph was performed within 12 hours after the procedure in all patients. RESULTS: Eighteen (4%) pneumothoraces occurred in 17 patients, 9 (2%) of which required chest tube drainage. Of the 488 patients without symptoms, only 5 (1%) developed a pneumothorax, only 1 of which required chest tube drainage. By contrast, of the 18 patients with symptoms, 13 developed a pneumothorax, 8 of which required chest tubes. There were two independent predictors of pneumothorax: presence of symptoms (odds ratio [OR] = 250; 95% confidence interval [CI]: 65 to 980) and male gender (OR = 5.4; 95% CI: 1.9 to 69). CONCLUSIONS: Among the symptom-free patients in our sample, the risk of developing pneumothorax with clinical consequences was so low that the practice of routine chest roentgenography may not be justified.

Chest Tubes↗
PubMed1999

Adult glycogenosis II with paracrystalline mitochondrial inclusions and Hirano bodies in skeletal muscle.

Hirano bodies constitute eosinophilic intracytoplasmic inclusions, typically seen in the central nervous system, where they are related to senility and certain dementias such as Alzheimer's disease or the Parkinson-dementia complex. They have been found in different tissues of experimental animals and, on rare occasions, in extraocular muscles of elderly individuals. However, to our knowledge they have not been described in skeletal muscle in locations other than extraocular muscles or associated with muscle pathology. Glycogenosis II or Pompe's disease, is a metabolic disorder caused by acid maltase deficiency and is characterized by glycogen accumulation in lysosomes in various tissues, including skeletal muscle. There are three clinical forms depending on age at onset, the most frequent being the childhood form. We present the histopathological and ultrastructural findings of a muscle biopsy performed in a case of the adult form of glycogenosis II which showed, in addition to characteristic lysosomal glycogen storage, paracrystalline mitochondrial inclusions and, as an exceptional finding, intracytoplasmic Hirano bodies in some muscle fibres.

Female↗
PubMed1999

A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.

We have identified a novel missense mutation, an A-T transition at codon 684 in exon 17, changing an encoded asparagine to a tyrosine (Asn684Tyr) in a Spanish patient with typical McArdle's disease. The patient was a compound heterozygote, with a previously-described mutation (Gly204Ser) on the other allele. This report expands the molecular genetic heterogeneity in McArdle's disease, emphasizes the presence of private mutations in specific ethnic groups, and indicates that geographic origin must be considered before undertaking DNA analysis for diagnosis.

Adult↗
PubMed1999

Pharyngo-esophageal motility disturbances in patients with myotonic dystrophy.

BACKGROUND: Esophageal motility is often disturbed in patients with myotonic dystrophy. The esophageal motor derangement pattern and its correlation with esophageal and peripheral motor symptoms is not well defined. Our aims were to evaluate: 1) pharyngo-esophageal motor abnormalities in these patients; 2) the relationship between motor involvement and clinical manifestations; and 3) the correlation between pharyngo-esophageal motility abnormalities and peripheral neuromuscular involvement. METHODS: We compared data from 18 patients and 18 healthy controls. Neuromuscular affectation was quantified with a five-point muscular disability rating scale. Pharyngo-esophageal symptoms were assessed with a directed questionnaire, whereas motility was evaluated by means of manometry. RESULTS: Myotonic dystrophy patients had diminished pharyngeal contraction amplitude, upper esophageal sphincter basal pressure, and esophageal body contraction amplitude compared with the control group (P < 0.001). No signs of esophageal myotony were evident. Simultaneous esophageal waves after more than 40% of liquid swallows were found in 80% of patients. No relationship between esophageal manometric alteration and esophageal or peripheral motility symptoms was elicited. CONCLUSION: In patients with myotonic dystrophy pharyngo-esophageal motility is severely deranged in both amplitude and coordination. These abnormalities may be present even if symptoms referred by the patient or the severity of the disease is not remarkable.

Adolescent↗
PubMed1998

Uncloned expanded CAG/CTG repeat sequences in autosomal dominant cerebellar ataxia (ADCA) detected by the repeat expansion detection (RED) method.

In some neurodegenerative diseases, genetic anticipation correlates with expansions of the CAG/CTG repeat sequence above the normal range through the generations of a pedigree. Among these neurodegenerative diseases are late onset autosomal dominant cerebellar ataxias (ADCA). ADCA are genetically heterogeneous disorders with different cloned genes for spinocerebellar ataxia type 1 (SCA1), type 2 (SCA2), type 3 or Machado-Joseph disease (SCA3/MJD), and type 6 (SCA6). Another related dominant ataxia, dentatorubral-pallidoluysian atrophy (DRPLA), also shows CAG/CTG repeat expansions. Genetic anticipation has been reported for all of them except for the recently cloned SCA6 gene. Other, as yet undetected SCA genes may show the same features. We have used the repeat expansion detection (RED) method to detect repeat expansions directly in DNA samples from ADCA patients not resulting from known genes. Our sample consists of 19 affected index cases, corresponding to 52.8% of our ADCA families without CAG/CTG repeat expansions in the SCA1, SCA2, SCA3/MJD, SCA6, or DRPLA genes. Eighty-nine percent of the index cases had expansions of a CAG/CTG sequence greater than 40 repeats by RED, while these were observed in only 26.9% of 78 healthy subjects from the general population (p < 0.0001). The distribution of RED fragments in controls and ADCA patients also shows significant differences with the Mann-Whitney U test (U = 376.5, p = 0.0007). Moreover, there was a significant inverse correlation between the size of expansion and the age of onset (r = -0.54, p = 0.018). These results show CAG/CTG repeat expansions of over 40 repeats in our sample of ADCA families not resulting from known SCA genes.

Adult↗
PubMed1998

Familial multiple symmetric lipomatosis associated with the A8344G mutation of mitochondrial DNA.

We describe familial multiple symmetric lipomatosis in a pedigree harboring the 8344 mutation in the tRNA(Lys) gene of mitochondrial DNA (mtDNA). The proband showed neuromuscular involvement but lacked the typical manifestations of myoclonic epilepsy and ragged-red fibers disease. The distribution of the mutation was unusual because the proportion of mutated genomes was higher in blood and lipomas than in muscle tissue.

Adult↗
PubMed1998

Molecular genetic analysis of McArdle's disease in Spanish patients.

We analyzed leukocyte DNA of 19 patients from 12 Spanish families with McArdle's disease (myophosphorylase deficiency). In 15 patients, the enzyme defect was documented histochemically in muscle, and in four the diagnosis was based on clinical and laboratory data. Three patients were homozygous and six were heterozygous for the nonsense mutation at codon 49 (R49X). Our findings indicate that the R49X mutation, which is common in English and American patients, is also present in Spanish patients with McArdle's disease, but at a lower frequency.

Adult↗
PubMed1997

Polymorphisms at 13 expressed human sequences containing CAG/CTG repeats and analysis in autosomal dominant cerebellar ataxia (ADCA) patients.

Genetic anticipation--increasing severity and a decrease in the age of onset with successive generations of a pedigree--is clearly present in autosomal dominant cerebellar ataxia (ADCA). Anticipation is correlated with expansion of the CAG/CTG repeat sequence to sizes above those in the normal range through the generations of a pedigree. Genetic heterogeneity has been demonstrated for ADCA, with four cloned genes (SCA1, SCA2, SCA3/MJD, and SCA6) and three mapped loci (SCA4, SCA5 and SCA7). Another related dominant ataxia, dentatorubral-pallidoluysian atrophy (DRPLA), presents anticipation with CAG/CTG repeat expansions. We had previously analysed ADCA patients who had not shown repeat expansions in cloned genes for CAG/CTG repeat expansions by the repeat expansion detection method (RED) and had detected expansions of between 48 and 88 units in 17 unrelated familial cases. We present here an analysis of 13 genes and expressed sequence tags (ESTs) containing 10 or more CAG/CTG repeat sequences selected from public databases in the 17 unrelated ADCA patients. Of the 13 selected genes and ESTs, 9 were found to be polymorphic with heterozygosities ranging between 0.09 and 0.80 and 2 to 17 alleles. In ADCA patients none of the loci showed expansions above the normal range of the CAG/CTG repeat sequences, excluding them as the mutation causing ADCA.

Base Sequence↗
PubMed1997

Cramps and minimal EMG abnormalities as preclinical manifestations of spinal muscular atrophy patients with homozygous deletions of the SMN gene.

The characterization of deletions in the SMN gene provides a helpful tool to confirm the diagnosis of spinal muscular atrophy (SMA). However, there may be homozygous deletions of the SMN gene in some unaffected siblings of SMA type II and III patients. We present two SMA families with affected siblings demonstrating a homozygous deletion of the SMN gene with extremely different phenotypes. We propose a preclinical category of an SMA patient with homozygous deletion of the SMN gene: those with minimal expression of the disease including cramps and EMG abnormalities that may develop the complete SMA phenotype in the future.

Adolescent↗