The tau gene A0 allele and progressive supranuclear palsy.

Background: Recent studies have shown an association between a polymorphic tandem repeat allele, located in intron 9, of the tau gene and progressive supranuclear palsy (PSP).

Objective: To investigate this tau polymorphism in individuals with a clinical diagnosis of sporadic or familial PSP as well as in cases confirmed by pathology.

Methods: We analyzed the frequency of tau intronic polymorphism, the presence of linkage in two families with multiple cases of PSP, the splicing of exon 10, and direct sequence of the tau gene.

Botulinum toxin treatment for spasmodic dysphonia: percutaneous versus transoral approach.

Spasmodic dysphonia (SD) is at present defined as focal dystonia. Botulinum toxin (BT) injection is the treatment of choice for SD. BT is usually injected by a percutaneous route, but a direct, visually guided transoral approach has also been successful.

[Laryngeal dystonia. Comparison of transcutaneous and transoral injection of botulinum toxin].

Spasmodic dysphonia is a focal dystonia that effects the proximal muscles (adduction dystonia) or dilatory (abduction dystonia) of the larynx. Botulinum toxin (BTX), generally delivered by percutaneous injection, is the treatment of choice. Recently, use has been made of a transoral route of delivery, with BTX injected through a curved device with visual control.

Somatic stability in chorionic villi samples and other Huntington fetal tissues.

We have studied different tissues from two affected fetuses with Huntington's disease (HD). In the first case the analysis was performed at 11 weeks of pregnancy; CAG repeats from seven different tissues were compared with the results obtained in the chorionic villi sample (CVS). We found 42 CAG repeats in all samples.

Huntington's disease: a multidisciplinary study.

Huntington's disease (HD) is characterized by the presence of movement disorders, cognitive decline and psychiatric disturbances. Recently, the gene responsible for HD has been found. As a result, a more direct test for HD is available.

Clinical and pharmacokinetic effects of a diet rich in insoluble fiber on Parkinson disease.

In this study, the effects of a diet rich in insoluble fiber (DRIF) on motor disability and the peripheral pharmacokinetics of orally administered L-dopa in Parkinsonian patients with marked constipation are analyzed. We found a useful effect of a DRIF on plasma L-dopa concentration and motor function. The greatest effect on the plasma L-dopa levels was found early (at 30 and 60 min) after oral administration.

[Craniocervical dystonia and facial hemispasm: clinical and pharmacological characteristics of 52 patients].

The results obtained in a retrospective study on clinical and pharmacological aspects of 41 patients suffering craniocervical dystonia (24 with blepharospasm, 17 with torticollis) and 11 with spasm are here presented. Mean age of symptoms onset was 57.4, 43.

[Focal dystonias and facial hemispasm: treatment with botulinum A toxin].

We report the results of the treatment of 80 patients with various idiopathic focal dystonia and essential hemifacial spasm with Botulinum A toxin. A statistically significant improvement was obtained in our 34 patients with blepharospasm, 19 patients with hemifacial spasm, 59% of 22 patients with cervical dystonia and 60% of 5 patients with hand dystonia. Mean duration of the benefit of each injection was 15.

[Physiopathology of dystonia].

Dystonia is a movement disorder characterized by sustained twisting movements and muscle contractions and abnormal postures. Dystonia is a symptom present in many diseases of the central nervous system. Anatomical data reveal that dystonia appears in diseases involving the basal ganglia, diencephalon, brain stem and cerebellum.

Differential expression of neurofilament triplet proteins in carcinoid tumours: an immunohistochemical study.

Neurofilaments (NFs) are specific intermediate filaments to neural cells. Mammalian NFs are protein triplets composed of three major subunits with respective molecular weights of approximately 70, 150 and 200 kD. Using an immunohistochemical method, 13 carcinoid tumours from different sites were examined for the presence of these three subunits by means of monospecific antisera.

[Focal dystonias and facial hemispasm: treatment with botulinum A toxin].

We report the results of the treatment of 80 patients with various idiopathic focal dystonia and essential hemifacial spasm with Botulinum A toxin. A statistically significant improvement was obtained in our 34 patients with blepharospasm, 19 patients with hemifacial spasm, 59% of 22 patients with cervical dystonia and 60% of 5 patients with hand dystonia. Mean duration of the benefit of each injection was 15.

[Physiopathology of dystonia].

Dystonia is a movement disorder characterized by sustained twisting movements and muscle contractions and abnormal postures. Dystonia is a symptom present in many diseases of the central nervous system. Anatomical data reveal that dystonia appears in diseases involving the basal ganglia, diencephalon, brain stem and cerebellum.

[Clinical and epidemiologic characteristics of familial Parkinson disease].

We have studied 44 patients diagnosed of idiopathic Parkinson disease included in our database of rigid-akinetic syndromes. We have compared their demographic, environmental and clinical features with the ones that presented a group on 22 patients diagnosed of idiopathic Parkinson disease and had some first degree relatives with the same disease. Patients with familial Parkinson disease are distinguished from the ones that suffer from sporadic Parkinson disease because of an early start, greater consanguinity rate and greater frequency of a similar disease in their parents.

[Reflex sympathetic dystrophy. A new manifestation of Lyme disease?].

Several syndromes derived from the involvement of central and peripheral nervous system and meninges have been reported in the infection by Borrelia burgdorferi. The features of autonomic nervous system involvement have received a marginal attention. Reflex sympathetic dystrophy is an autonomic picture characterized by regional sympathetic hyperactivity which has not been associated with Lyme disease.

[Prognostic value of CAT scanning in spontaneous supratentorial cerebral hemorrhage. Multivariate study in 114 patients].

Prognostic computed tomographic findings for 30-day outcome (survival or death) were retrospectively assessed in 114 patients with spontaneous supratentorial intracerebral hemorrhage. All were treated nonsurgically. CT scans were used to determine location and size of the lesion, presence or absence of intraventricular spread, degree of mass effect and presence or absence of cortical atrophy.

Cluster headache and intercalated seizures in a young man: therapeutic effectiveness of flunarizine.

A young man suffering from both cluster headache and epilepsy is reported. Since the age of 37 he had recurrent generalized tonic-clonic seizures; one year later cluster headache attacks began. Neurological examination, standard laboratory tests and CT-scan were normal.