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Biomedical subjects

J Berciano

Publications and source records attributed to J Berciano.

At least 73 records · Page 4Linked to original sources
PubMed1999

Spinocerebellar ataxias in Spanish patients: genetic analysis of familial and sporadic cases. The Ataxia Study Group.

Autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of neurodegenerative disorders caused by unstable CAG repeat expansions encoding polyglutamine tracts. Five spinocerebellar ataxia genes (SCA1, SCA2, SCA3, SCA6 and SCA7) and another related dominant ataxia gene (DRPLA) have been cloned, allowing the genetic classification of these disorders. We present here the molecular analysis of 87 unrelated familial and 60 sporadic Spanish cases of spinocerebellar ataxia. For ADCA cases 15% were SCA2, 15% SCA3, 6% SCA1, 3% SCA7, 1% SCA6 and 1% DRPLA, an extremely rare mutation in Caucasoid populations. About 58% of ADCA cases remained genetically unclassified. All the SCA1 cases belong to the same geographical area and share a common haplotype for the SCA1 mutation. The expanded alleles ranged from 41 to 59 repeats for SCA1, 35 to 46 [corrected] for SCA2, 67 to 77 for SCA3, and 38 to 113 for SCA7. One SCA6 case had 25 repeats and one DRPLA case had 63 repeats. The highest CAG repeat variation in meiotic transmission of expanded alleles was detected in SCA7, this being of +67 units in one paternal transmission and giving rise to a 113 CAG repeat allele in a patient who died at 3 years of age. Meiotic transmissions have also shown a tendency to more frequent paternal transmission of expanded alleles in SCA1 and maternal in SCA7. All SCA1 and SCA2 expanded alleles analyzed consisted of pure CAG repeats, whereas normal alleles were interrupted by 1-2 CAT trinucleotides in SCA1, except for three alleles of 6, 14 and 21 CAG repeats, and by 1-3 CAA trinucleotides in SCA2. No SCA or DRPLA mutations were detected in the 60 sporadic cases of spinocerebellar ataxia, but one late onset patient was identified as a recessive form due to GAA-repeat expansions in the Friedreich's ataxia gene.

Adult↗
PubMed1999

Castleman's disease associated with chronic inflammatory demyelinating polyradiculoneuropathy: a clinical and electrophysiological follow-up study.

Castleman's disease (CD), or angiofollicular lymph node hyperplasia, is a rare lymphoproliferative disorder that can be associated with peripheral neuropathy. We report the long-term follow-up of a patient with a chronic inflammatory demyelinating polyradiculoneuropathy complicating the mediastinal form of classic CD who improved notably with immunosuppressive therapy. Our findings suggest that serial electrophysiological studies may be useful for monitoring treatment efficacy.

Aged↗
PubMed1999

Neuroimaging diagnosis of Tolosa-Hunt syndrome: MRI contribution.

OBJECTIVE: To present our experience in the neuroradiological diagnosis of six patients with Tolosa-Hunt syndrome. METHODS: Computerized tomograms and MRI, with and without contrast enhancement, of the cranium and orbits of patients fulfilling IHS criteria for the diagnosis of Tolosa-Hunt syndrome were analyzed. RESULTS: Standard CT scan, with and without contrast enhancement, disclosed an enlarged cavernous sinus in one patient and was normal in the remaining five. In comparison, MRI was clearly abnormal in the four patients on whom it was performed, showing a convex enlargement of the symptomatic cavernous sinus by an abnormal tissue isointense with gray matter on short TR/TE images and iso-hypointense on long TR/TE scans. This abnormal tissue markedly increased in signal intensity after contrast injection and, in two patients, extended into contiguous regions, mainly the orbital apex and subtemporal fossa ipsilaterally. One patient had follow-up studies after successful treatment with corticosteroids. Although diminished in size, the abnormal tissue was still visible on MRI after 3 months of treatment and only disappeared after 6 months of treatment. CONCLUSIONS: These MRI findings help in the differential diagnosis of the Tolosa-Hunt syndrome from conditions such as meningioma, lymphoma, and sarcoidosis, as well as confirming the similarities of the Tolosa-Hunt syndrome and orbital pseudotumor. In the presence of painful ophthalmoplegia, the finding by MRI of cavernous sinus enlargement, with the herein described signal and extension characteristics and slow resolution with corticosteroid treatment, is highly suggestive of the Tolosa-Hunt syndrome.

Acoustic Stimulation↗
PubMed1999

Tolosa-Hunt syndrome: focus on MRI diagnosis.

Experience with modern neuroimaging techniques, computed tomography (CT) and magnetic resonance imaging (MRI) scans, in the diagnosis of Tolosa-Hunt syndrome (THS) is reviewed. Conventional CT scan remains normal in about two-thirds of these patients. In the reported 22 patients meeting the IHS criteria for a THS diagnosis on whom an MRI study was performed, MRI revealed a convex enlargement of the symptomatic cavernous sinus by an abnormal tissue isointense with gray matter on short TR/TE images and isohypointense on long TR/TE images. This abnormal tissue markedly increases in signal intensity after contrast injection. MRI seems also to be the ideal technique to follow progressive resolution of the abnormal tissue after steroids. Therefore, normal MRI would probably exclude THS, whereas in the appropriate clinical setting of steroid-responsive painful ophthalmoplegia, MRI showing the cavernous sinus abnormality described here suggests a diagnosis of THS. From these data, we propose that the fourth IHS criterion for THS diagnosis, "Exclusion of other causative lesions by neuroimaging and (not compulsory) carotid angiogram" should be changed to "Finding by MRI of specific cavernous sinus abnormalities (with the characteristics described herein) which slowly resolve with steroid treatment".

Humans↗
PubMed1999

Early onset cerebellar ataxia and preservation of tendon reflexes: clinical phenotypes associated with GAA trinucleotide repeat expanded and non-expanded genotypes.

The aim of this study was to determine phenotypie characteristics of patients with early onset cerebellar ataxia (EOCA) with preserved tendon reflexes. The series comprises 25 patients, representing 10% of all ataxic patients who have been genetically studied in our laboratory since 1990. There were 11 males and 14 females. Fourteen patients were homozygous for the GAA expansion on chromosome 9q13 (group 1) and therefore a diagnosis of Friedreich's ataxia with retained reflexes (FARR) was given. The remaining 11 patients had two normal non-expanded alleles (group 2) and a working diagnosis of EOCA with retained reflexes (EOCARR) was established. Mean ages of onset were 13.7 +/- 5.9 years (3-25) for group 1 and 10.3 +/- 7.3 for group 2; the difference was not significant. Frequencies of symptoms and signs were also comparable for both groups the only significant differences being the higher frequency of nystagmus, cardiomyopathy and sensory neuropathy in group 1 patients. There was a tendency for FARR patients to have higher frequencies of hypopallesthesia in the lower limbs and skeletal deformities. In none of the cases diabetes mellitus was observed. We conclude that differentiation of FARR and EOCARR may be suspected by classical clinical and electrophysiological data and confirmed by analysis of the GAA repeat.

Adolescent↗
PubMed1998

5-HT1B receptor binding in degenerative movement disorders.

Using [3H]sumatriptan as a radioligand, 5-hydroxytryptamine (5-HT)1B receptors were examined in posterior striatum and midbrain post-mortem tissue sections of 12 patients who had died from representative degenerative movement disorders as compared to nine controls. In the control human basal ganglia, the highest densities of [3H]sumatriptan binding were observed in the globus pallidus and substantia nigra. No significant change in the density of [3H]sumatriptan binding sites was found in the striatum and substantia nigra of the six Parkinson's disease brains. In the two brains from patients with progressive supranuclear palsy an increase was found in the densities of [3H]sumatriptan binding sites, most marked in the substantia nigra. In contrast, [3H]sumatriptan labelling was almost absent in the striatonigral degeneration brain and was markedly reduced in the three Huntington's disease brains. This study indicates that the status of 5-HT1B receptors is different in each degenerative movement disorder and suggests that human 5-HT1B receptors are located somatodendritically on GABAergic and peptidergic caudate-putamen neurons which project to the substantia nigra and globus pallidus, where these receptors are presynaptic.

Aged↗
PubMed1998

Isolated unilateral hypoglossal nerve palsy: nine cases.

We report nine patients with hypoglossal nerve palsy as the sole neurological manifestation, without simultaneous involvement of other cranial nerves or long-tract signs. In four patients, no cause was found and the outcome was excellent. The next common cause proved to be metastatic disease at the base of the skull in three patients. Two exceptional causes were Chiari malformation in one case and dural arteriovenous fistula of the transverse sinus in another. Although the aetiological importance and ominous prognosis of neoplasia has been emphasized by others, our study suggests that an isolated hypoglossal nerve palsy may be benign and idiopathic.

Adolescent↗
PubMed1998

The distinctive headache of the occipital condyle syndrome: a report of four cases.

Four examples of occipital condyle syndrome, that is, unilateral occipital pain and ipsilateral tongue paralysis due to selective erosion of the occipital condyle, are reported. The four patients complained of a continuous, severe, unilateral, occipital pain which kept them with the head rotated to the side of the pain and held with their hands. The pain became unbearable with head rotation to the nonpainful side and with unilateral suboccipital palpation. The onset of this very characteristic unilateral headache antedated by as long as 2 1/2 months the ipsilateral hypoglossal paralysis. The occipital condyle syndrome may be the first manifestation of cancer or of chronic inflammatory lesions; recognition of this distinctive headache enables the clinical diagnosis to be made.

Aged↗
PubMed1998

Gender effect on apolipoprotein E epsilon4 allele-associated risk for sporadic Alzheimer's disease.

INTRODUCTION: The role of gender in Alzheimer's disease (AD), and its possible interaction with apolipoprotein E (apoE), has been controversial. MATERIAL AND METHODS: ApoE allelic frequencies and the effect of apoE epsilon4 allele dosage on risk and age at onset of AD were evaluated, separately for men and women, in 100 patients with sporadic AD and 100 age-matched controls. RESULTS: The distribution of apoE alleles and the odds ratio for AD, when associated with 1 or 2 epsilon4 alleles, were not statistically different between men and women. No effect of the dosage of the epsilon4 allele was found on the age at onset of dementia in the 2 sex groups. CONCLUSION: Our data suggest that the relation of the apoE genotype to AD is not dependent on sex.

Alleles↗
PubMed1998

Association of the HLA-A2 allele with an earlier age of onset of Alzheimer's disease.

INTRODUCTION: The HLA-A2 allele has recently been considered as a risk factor in AD by advancing the age at onset of the disease, especially in subjects who were homozygous for the apoE epsilon4 allele. MATERIAL AND METHODS: We examined the distribution of apoE genotypes and A2 allele as a function of age at onset in 109 patients with sporadic and familial AD. RESULTS: In the early onset (< or =60 years) and late onset (>75 years) AD groups, there was, respectively, a 2.2 year and a 2.7 year earlier onset in the A2 positive cases. Age effect was not apparent in the middle onset (61-75 years) AD group. The effect of A2 allele on the age at onset was not different between familial and sporadic AD cases. The presence or absence of the A2 allele did not modify mean age at onset in the groups homozygous and heterozygous for epsilon4, and in cases with no epsilon4 alleles. CONCLUSION: Though the sample size was small, there is a trend in favor of an A2 effect on age at onset. Additionally, there is no evidence of interaction between A2 and apoE epsilon4 alleles on age at onset of AD.

Adult↗
PubMed1998

The peripheral insulin-like growth factor system in amyotrophic lateral sclerosis and in multiple sclerosis.

A lack of trophic support may lead to degeneration of adult nerve cells. Several growth factors, including insulin-like growth factor I (IGF-I), control the survival of spinal motor neurons during development as well as after experimental injury. These neurons are selectively affected in patients with amyotrophic lateral sclerosis (ALS). Thus, we analyzed whether reduced levels of circulating IGF-I may be present in this disease. Significant increases were found in three of four of the main circulating IGF-binding proteins in ALS patients, whereas serum IGF-I and insulin levels were significantly reduced. On the contrary, multiple sclerosis patients did not show any significant change in the IGF-I trophic system even though oligodendrocytes are known targets of the trophic action of IGF-I. These results suggest an involvement of the peripheral IGF-I trophic system in ALS.

Adult↗
PubMed1998

Charcot-Marie-Tooth disease type 1A with 17p duplication in infancy and early childhood: a longitudinal clinical and electrophysiologic study.

OBJECTIVE: We describe longitudinal clinical and electrophysiologic evaluation of Charcot-Marie-Tooth disease type 1A (CMT-1A) in infancy and early childhood. BACKGROUND: The clinical picture and electrophysiologic evaluation of CMT-1A during the age of nerve conduction maturation have not been documented. DESIGN/METHODS: Twenty at-risk children from six unrelated CMT-1A families were examined in the first 5 years of life. Initial ages were 1 month to 4 years (mean, 1.5 years) and final ages 4 to 19 years (mean, 9 years). All subjects had two or more motor and sensory conduction velocities (MCV and SCV), corrected distal motor latencies (DML), and F-waves. RESULTS: Twelve children were affected. Initially, two of these (17%) had symptoms, whereas five (42%) were symptomatic at the end. Numbers of abnormal examinations at the beginning was six (50%) and at conclusion was 10 (83%). None of the patients were disabled. From 2 years of age, all affected children had abnormal MCV, SVC, F-waves, and DML. Prolonged DML was already present in the first months of life and preceded slowing of MCV in three cases. CONCLUSION: The electrophysiologic studies were concordant with the presence or absence of the CMT-1A DNA duplication. In most CMT-1A patients, symptoms appear in early childhood, although the florid clinical picture does not occur until the second decade of life. Serial electrophysiologic studies can detect the CMT-1A gene carrier in infancy.

Adolescent↗