Publications by authors named "Luis Torres-Ramirez"
Article Synopsis
- - The study aimed to create a global cohort of individuals with Parkinson's disease (PD) linked to specific genetic variants, aiming to improve the understanding and treatment of monogenic PD.
- - Researchers collected data from 3,888 participants across 92 centers in 42 countries, including 3,185 diagnosed with PD and 703 unaffected individuals, which highlighted a total of 269 distinct pathogenic variants.
- - This initiative not only established the largest international genetic PD cohort but also provided quality-controlled clinical and genetic data to foster further research collaboration.
A 50-year-old male patient who, after 3 months of cranial brain trauma, presented proptosis, chemosis and exophthalmos in the left eye. Subsequently, dysmetria develops in the left extremities and right hemiparesis. The diagnosis of carotid-cavernous fistula (FCC) associated with hyperintensity of signal in FLAIR and diffuse contrast uptake at the level of the pseudo tumoral protuberance and cerebellar peduncle was established.
View Article and Find Full Text PDF[Creutzfeldt-Jakob disease in Peru: report of eleven cases].
Rev Peru Med Exp Salud Publica
April 2014
Creutzfeldt-Jakob disease (CJD) is a fatal neurological disease caused by pathological isoform of the human prion protein. Clinical features of six cases of the sporadic form of CJD with definitive diagnosis by histopathology, and five cases with probable diagnosis were reported in patients treated at the Peruvian National Institute of Neurological Sciences. The average age of onset in definite cases was 55.
View Article and Find Full Text PDFArticle Synopsis
- Chorea is a rare movement disorder that can occasionally occur due to erythrocytosis, a condition characterized by an increase in red blood cell mass.
- Primary erythrocytosis is often caused by polycythemia vera, while secondary causes can include living at high altitudes, leading to reduced oxygen levels.
- A case study reported a 71-year-old man experiencing sudden generalized chorea predominantly affecting his mouth, tongue, face, and lower limbs, which improved after treatment to lower his red blood cell count through phlebotomy.
[Kennedy disease in Peru: first cases with molecular diagnosis].
Rev Peru Med Exp Salud Publica
April 2013
Kennedy's disease is an X-linked recessive disorder with onset in adulthood, characterized by progressive degeneration of spinal motor neurons due to a dynamic mutation in the androgen receptor gene. We report three families (five cases) characterized by progressive weakness involving both limbs and bulbar muscles, atrophy, tremor, cramps and endocrinologic disturbances; the neurophysiological studies demonstrated second motor neuron impairment. The molecular analysis identified abnormal CAG repeats expansion in the androgen receptor gene (AR) in all cases.
View Article and Find Full Text PDFWe aimed to perform a comprehensive systematic review of the existing ataxia scales. We described the disorders for which the instruments have been validated and used, the time spent in its application, its validated psychometric properties, and their use in studies of natural history and clinical trials. A search from 1997 onwards was performed in the MEDLINE, LILACS, and Cochrane databases.
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