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Article
Nocturnal hypertension and dysautonomia in patients with Parkinson’s disease: are they related?
Orthostatic hypotension and supine hypertension frequently coexist in Parkinson’s disease (PD) patients, leading to visceral damage and increased mortality rates. The aim of this paper is to analyze the freque...
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Article
Open AccessCoexistence of protease sensitive and resistant prion protein in 129VV homozygous sporadic Creutzfeldt–Jakob disease: a case report
The coexistence of different molecular types of classical protease-resistant prion protein in the same individual have been described, however, the simultaneous finding of these with the recently described pro...
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Article
Impact of psychiatric symptoms and sleep disorders on the quality of life of patients with Parkinson’s disease
The objective of this study is to assess how the non-motor symptoms of Parkinson’s disease (PD), such as depression, cognitive deterioration, neuropsychiatric and sleep disorders, affect the quality of life, a...
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Article
Tako-tsubo cardiomyopathy in a patient with bilateral lesions in the dorsal medulla
Tako-tsubo-like cardiomyopathy (TTC) is much more common than originally thought. The exact pathophysiology of TTC is unclear. The most accepted theory proposes myocardial stunning of neurogenic origin, suppor...
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Article
Open AccessA novel form of human disease with a protease-sensitive prion protein and heterozygosity methionine/valine at codon 129: Case report
Sporadic Creutzfeldt-Jakob disease (sCJD) is a rare neurodegenerative disorder in humans included in the group of Transmissible Spongiform Encephalopathies or prion diseases. The vast majority of sCJD cases ar...
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Article
Abnormal multifocal cerebral blood flow on Tc-99m HMPAO SPECT in a patient with anti-NMDA-receptor encephalitis
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Article
Lrrk2 R1441G-related Parkinson’s disease: evidence of a common founding event in the seventh century in Northern Spain
Mutations in the leucine-rich repeat kinase 2 (LRRK2) gene together represent the most common genetic determinant of Parkinson’s disease (PD) identified to date. The vast majority of patients with LRRK2-related P...
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Article
Orthostatic hypotension associated with an epidermoid tumor of the IV ventricle
We report the case of a 32-year-old man with an epidermoid tumor of the fourth ventricle. About 14 years later, he showed a tumor recurrence which was removed. After this procedure the patient complained of pr...
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Article
Molecular evidence of founder effects of fatal familial insomnia through SNP haplotypes around the D178N mutation
This work presents a detailed investigation of the genomic region surrounding the PRNP gene in a sample of patients diagnosed with fatal familial insomnia (FFI) from several European countries, notably Spain. The...
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Article
Ancestral origins of the prion protein gene D178N mutation in the Basque Country
Fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD) are familial prion diseases with autosomal dominant inheritance of the D178N mutation. FFI has been reported in at least 27 pedigrees...
