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Migraine-induced epistaxis and sporadic hemiplegic migraine: unusual features i...

Abstract Background: Since the mid-19th century, epistaxis and migraine have been occasionally associated with each other. Nevertheless, we found only two cases in the contemporary medical literature. Sporadic hemiplegic migraine is a subtype of migraine with reversible motor deficits, without similar episodes in relatives. Case: We describe a 47-year-old male with a history of migraine with a scintillating ...

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-...

BACKGROUND AND PURPOSE: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. METHODS: During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admit...

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-...

BACKGROUND AND PURPOSE: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. METHODS: During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admit...

Mutations of the GLA gene in young patients with stroke: the PORTYSTROKE study-...

BACKGROUND AND PURPOSE: Fabry disease is an X-linked monogenic disorder caused by mutations in the GLA gene. Recent data suggest that stroke in young adults may be associated with Fabry disease. We aimed to ascertain the prevalence of this disorder among young adult patients with stroke in Portugal by GLA genotyping. METHODS: During 1 year, all patients aged 18 to 55 years with first-ever stroke, who were admit...

SÍNDROME DE HIPERPERFUSÃO CEREBRAL APÓS ANGIOPLASTIA CAROTÍDEA: COMPLICAÇÃO POT...

Cerebellar ataxia with spasmodic cough: a new form of dominant ataxia

Background: Although mentioned in most series, “pure” autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. Objective: To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough. Patients: Through a pop...

Phenotypes of spinocerebellar ataxia type 6 and familial hemiplegic migraine ca...

Background: Different mutations in the 1A-subunit of the brain P/Q-type calcium channel gene (CACNA1A) are responsible for familial hemiplegic migraine (FHM), episodic ataxia type 2, and spinocerebellar ataxia type 6 (SCA6). Missense and splice site mutations have been found in FHM and episodic ataxia type 2, respectively, whereas a CAG repeat in the CACNA1A gene was found expanded in patients with SCA6. Objec...

Trinucleotide repeats in 202 families with ataxia: a small expanded (CAG)n alle...

BACKGROUND: Ten neurodegenerative disorders characterized by spinocerebellar ataxia (SCA) are known to be caused by trinucleotide repeat (TNR) expansions. However, in some instances the molecular diagnosis is considered indeterminate because of the overlap between normal and affected allele ranges. In addition, the mechanism that generates expanded alleles is not completely understood. OBJECTIVE: To examine the...

Cefalea racimos en una niña de 3 años

Summary. Introduction. Cluster headache is a rare disorder in childhood. We identified, in the literature, 64 cases of cluster headache starting at or before 18 years (only 17 of them began before 10 years old). All patients met the criteria of the International Headache Society. Russell et al demonstrated recently that the cluster headache is an inherited disorder in some families. They conclude that the gene ...

High germinal instability of the (CTG)n at the SCA8 locus of both expanded and ...

Abstract The autosomal dominant spinocerebellar ataxias (SCAs) are a group of late-onset, neurodegenerative disorders for which 10 loci have been mapped (SCA1, SCA2, SCA4-SCA8, SCA10, MJD, and DRPLA). The mutant proteins have shown an expanded polyglutamine tract in SCA1, SCA2, MJD/SCA3, SCA6, SCA7, and DRPLA; a glycine-to-arginine substitution was found in SCA6 as well. Recently, an untranslated (CTG)n expansi...