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Joseph Dalmau

Joseph C Masdeu, Josep Dalmau, Karen F Berman
Since the early 1990s it has been postulated that hypofunction of N-methyl-d-aspartate (NMDA) receptors in brain networks supporting perception and cognition underlies schizophrenic psychosis. Recently, NMDA receptor hypofunction was described in patients with psychotic manifestations who exhibited autoantibodies binding the GluN1 subunit of the receptor, and who improved when the level of these antibodies was lowered by immunomodulation. In this disorder, NMDA receptor antibodies decrease the availability of NMDA receptors by internalizing them...
May 2016: Trends in Neurosciences
Stacey L Clardy, Vanda A Lennon, Josep Dalmau, Sean J Pittock, H Royden Jones, Deborah L Renaud, Charles M Harper, Joseph Y Matsumoto, Andrew McKeon
IMPORTANCE: Reports of pediatric-onset stiff-man syndrome (SMS) are rare. This may be an underrecognized disorder in child neurology practice. OBJECTIVE: To describe patients with disorders in the SMS spectrum beginning in childhood. DESIGN, SETTING, AND PARTICIPANTS: This study was a medical record review and serological evaluation conducted at child and adult neurology clinics at the Mayo Clinic, Rochester, Minnesota. Systematic review of the literature was conducted of patients who presented from 1984-2012 with onset of symptomatic SMS occurring at age 18 years or younger...
December 2013: JAMA Neurology
G Alvarez, A Rey, F B Sanchez-Dalmau, E Muñoz, J Ríos, A Adán
PURPOSE: To report optical coherence tomography (OCT) findings in order to detect subclinical alterations of the afferent visual pathways in spinocerebellar ataxia 3 (SCA-3). PATIENTS AND METHODS: Nine genetically confirmed patients (18 eyes) were evaluated with a complete ophthalmologic examination including visual acuity, colour vision, visual field test, and retinal nerve fibre layer (RNFL) and macular thickness with OCT Cirrus HD. A neurological examination was performed and the Scale for the Assessment and Rating of Ataxia (SARA score) was determined in all patients...
December 2013: Eye
Andrew McKeon, Eugenia Martinez-Hernandez, Eric Lancaster, Joseph Y Matsumoto, Robert J Harvey, Kathleen M McEvoy, Sean J Pittock, Vanda A Lennon, Josep Dalmau
OBJECTIVES: To determine whether glycine receptor α1 subunit-specific autoantibodies (GlyRα1-IgG) occur in a broader spectrum of brainstem and spinal hyperexcitability disorders than the progressive encephalomyelitis with rigidity and myoclonus phenotype recognized to date, and to ascertain disease specificity. DESIGN: Retrospective, case-control study. SETTINGS: Mayo Clinic, Rochester, Minnesota, and University of Barcelona, Spain. PATIENTS: Eighty-one patients with stiff-man syndrome phenotype, 80 neurologic control subjects, and 20 healthy control subjects...
January 2013: JAMA Neurology
Erin H Breese, Joseph Dalmau, Vanda A Lennon, Metha Apiwattanakul, Deborah K Sokol
Anti-N-methyl-D-aspartate receptor antibody has been associated with a severe stereotypic form of subacute encephalitis, often found in women with ovarian teratoma. Reported here is the diagnosis of anti-N-methyl-D-aspartate receptor encephalitis in a 5-year-old girl who presented with subacute encephalopathy and movement disorder without evidence of malignancy. Early diagnosis and treatment with immune globulin and steroids resulted in near-complete recovery.
March 2010: Pediatric Neurology
Simona Ferioli, Josep Dalmau, Christopher A Kobet, Qihui Jim Zhai, Joseph P Broderick, Alberto J Espay
No abstract text is available yet for this article.
February 2010: Archives of Neurology
Jacques Fellay, Dongliang Ge, Kevin V Shianna, Sara Colombo, Bruno Ledergerber, Elizabeth T Cirulli, Thomas J Urban, Kunlin Zhang, Curtis E Gumbs, Jason P Smith, Antonella Castagna, Alessandro Cozzi-Lepri, Andrea De Luca, Philippa Easterbrook, Huldrych F Günthard, Simon Mallal, Cristina Mussini, Judith Dalmau, Javier Martinez-Picado, José M Miro, Niels Obel, Steven M Wolinsky, Jeremy J Martinson, Roger Detels, Joseph B Margolick, Lisa P Jacobson, Patrick Descombes, Stylianos E Antonarakis, Jacques S Beckmann, Stephen J O'Brien, Norman L Letvin, Andrew J McMichael, Barton F Haynes, Mary Carrington, Sheng Feng, Amalio Telenti, David B Goldstein
To extend the understanding of host genetic determinants of HIV-1 control, we performed a genome-wide association study in a cohort of 2,554 infected Caucasian subjects. The study was powered to detect common genetic variants explaining down to 1.3% of the variability in viral load at set point. We provide overwhelming confirmation of three associations previously reported in a genome-wide study and show further independent effects of both common and rare variants in the Major Histocompatibility Complex region (MHC)...
December 2009: PLoS Genetics
Wen Ying Wu-Chen, Dina A Jacobs, Nicholas J Volpe, Joseph O Dalmau, Mark L Moster
A 37-year-old woman developed a left third cranial nerve palsy 28 years after radiation for a nonsecreting pituitary adenoma. Imaging disclosed a left parasellar mass and a midbrain/pontine signal abnormality. Biopsy of the parasellar mass revealed a malignant sarcoma. The brainstem abnormality was presumptively diagnosed as a malignant glioma. A 63-year-old man developed a malignant astrocytoma of the left optic nerve and chiasm 23 years after partial excision and radiation of a nonsecreting pituitary adenoma...
December 2009: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
Masaki Kimura, Mizuki Onozawa, Akira Fujisaki, Takashi Arakawa, Katsuhiko Takeda, Joseph Dalmau, Kazunori Hattori
Anti-Ma2-associated encephalitis is a paraneoplastic disorder that predominantly affects the limbic system, diencephalon and brainstem, and is usually associated with tumors of the testis. We report a 35-year-old man with a right testicular mass who presented with multiple neurological complains, and clinical, serological and radiological features compatible with anti-Ma2-associated encephalitis. After three courses of carboplatin, etoposide and bleomycin for metastatic testicular germ-cell tumor, all elevated tumor markers normalized and the retroperitoneal metastases disappeared, but the neurological disorder deteriorated...
October 2008: International Journal of Urology: Official Journal of the Japanese Urological Association
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