- The new mutation, E46K, of alpha-synuclein causes Parkinson and Lewy body dementiaJuan J Zarranz
Department of Neurology, de Cruces Hospital, Departament of Neuroscience, University del Pais Vasco, Baracaldo, Vizcaya, Spain
Ann Neurol 55:164-73. 2004..Our data show that, in addition to the previously described hereditary alpha-synucleinopathies, dementia with Lewy bodies is related to mutation of alpha-synuclein...
- Phenotypic variability in familial prion diseases due to the D178N mutationJ J Zarranz
Neurology Service, Hospital Cruces, Department of Neurosciences, University of the Basque Country, 48903 Baracaldo, Vizcaya, Spain
J Neurol Neurosurg Psychiatry 76:1491-6. 2005....
- Tau-predominant-associated pathology in a sporadic late-onset Hallervorden-Spatz syndromeJuan J Zarranz
Neurology Service, Hospital de Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Vizcaya, Spain
Mov Disord 21:107-11. 2006....
- Abnormal sleep architecture is an early feature in the E46K familial synucleinopathyJuan J Zarranz
Neurology Service, Hospital of Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Vizcaya, Spain
Mov Disord 20:1310-5. 2005..REM sleep behavior disorder could not be recorded in any case. Our findings expand the spectrum of sleep disorders reported in synucleinopathies whether sporadic or familial...
- A novel mutation (K317M) in the MAPT gene causes FTDP and motor neuron diseaseJ J Zarranz
Neurology Service, Department of Neurosciences, Hospital Cruces, University of the Basque Country, Baracaldo, Vizcaya, Spain
Neurology 64:1578-85. 2005..In some families the genetic basis is still unknown. The authors report two pedigrees with FTDP-17 harboring a novel mutation (K317M) in exon 11 in the MAPT gene...
- [From empiricism to neuroscience in Alzheimer's disease]J Zarranz
Departamento de Neurologia, Hospital de Cruces, Barakaldo, Vizcaya, Spain
Rev Neurol 39:576-82. 2004..All the cases were grouped under the eponym of Alzheimer's disease and it is now being studied with the different modern scientific methods currently available to researchers...
- Familial prion diseases in the Basque Country (Spain)Juan J Zarranz
Service of Neurology, Hospital Cruces, Department of Neurosciences, University of the Basque Country, Baracaldo, Spain
Neuroepidemiology 24:103-9. 2005..Further genetic and genealogical studies should resolve this issue...
- [Prevalence of dementia in the elderly aged above 65 in a district in the Basque Country]M Fernandez
Hospital de Cruces, 48903 Baracaldo, Espana
Rev Neurol 46:89-96. 2008..To estimate the prevalence of dementia in the population aged above 65 in the district of Mungialde, Vizcaya...
- Ancestral origins of the prion protein gene D178N mutation in the Basque CountryAna B Rodríguez-Martínez
Unidad de Genómica Banco de ADN y Genotipado, Facultad de Farmacia, Universidad del Pais Vasco, Vitoria Gasteiz, Spain
Hum Genet 117:61-9. 2005..We propose that "happy typing" constitutes an efficient method for determining disease-associated haplotypes, since the analysis of a single affected individual per pedigree should provide sufficient evidence...
- Lrrk2-associated parkinsonism is a major cause of disease in Northern SpainMaría C González-Fernández
Servicio General de Investigación Genómica, Banco de ADN and Departamento de Z y Biología Celular A, Universidad del Pais Vasco, Vitoria Gasteiz, Spain
Parkinsonism Relat Disord 13:509-15. 2007..Our findings highlight the importance of Lrrk2 parkinsonism in this population and may have important consequences for its extended Diaspora in North, Central and South Americas...
- Use of ziprasidone in parkinsonian patients with psychosisJuan Carlos Gómez-Esteban
Neurology Service, Hospital of Cruces, Baracaldo, Vizcaya, Spain
Clin Neuropharmacol 28:111-4. 2005..Although controlled trials are needed, the findings suggest that ziprasidone may be effective in parkinsonian patients with psychosis...
- Parkinson's disease-like presentation of multiple system atrophy with poor response to STN stimulation: a clinicopathological case reportElena Lezcano
Service of Neurology, Hospital of Cruces, Neurosciences Department, University of the Basque Country, Spain
Mov Disord 19:973-7. 2004..Because the subject complied with all the inclusion criteria (Core Assessment Program for Surgical Interventional Therapies in Parkinson's Disease), bilateral subthalamic nucleus deep brain stimulation electrodes were implanted...
- Restless legs syndrome in Parkinson's diseaseJuan C Gómez-Esteban
Neurology Service, Movement Disorders Unit, Hospital Cruces, Baracaldo, Vizcaya
Mov Disord 22:1912-6. 2007..It would be advisable to validate the diagnostic criteria of RLS in this specific group of patients...
- Outcome of bilateral deep brain subthalamic stimulation in patients carrying the R1441G mutation in the LRRK2 dardarin geneJuan C Gómez-Esteban
Movement Disorders Unit, Neurology Service, Cruces Hospital, Baracaldo, Vizcaya, Spain
Neurosurgery 62:857-62; discussion 862-3. 2008..The present study analyzes the postoperative outcome of deep brain subthalamic stimulation in patients carrying the R1441G mutation in the leucine-rich repeat kinase-2 (LRRK2) (dardarin) gene...