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2 results on '"Vavla M"'

1. Extraocular phenotyping of mitochondrial optic neuropathy.

Author

Martinuzzi, A., Vavla, M., Papayannis, A., Petacchi, E., Carraro, E., Paparella, G., Privato, F., and Prosdocimo, G.

Subjects
*NEURODEGENERATION, *PARAPLEGIA, *PATIENTS, *THERAPEUTICS
Abstract

The presence of clinical neurophtalmologic manifestations in neurodegenerative disease of early onset such as the hereditary spastic paraplegias ( HSP), spino cerebellar ataxias ( SCA) or hereditary sensory motor neuropathies ( HSMN) has been an inconstant element often reported in case descriptions. A more widespread and subclinical involvement of the retina and the optic nerve however is suspected in most of these conditions. Mitochondrial dysfunction is frequently recognized in the pathophysiology underlining the above mentioned neurodegenerative genetically determined conditions. Retina and the optic nerve are privileged target tissues where mitochondrial pathology is expressed. We systematically explored in a cohort of patients with early onset molecularly defined HSP, SCA or HSMN the occurrence of subclinical involvement of the visual system, with the aim of establishing its real prevalence and its correlation with functional and neuroimaging data. The definition of a typical pattern of alteration may contribute to the inclusion of neuro-ophtamological measures as sensible objective biomarkers of disease and indicators for disease severity and progression. [ABSTRACT FROM AUTHOR]

Published
2015
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2. Brain Structure and Degeneration Staging in Friedreich Ataxia: Magnetic Resonance Imaging Volumetrics from the ENIGMA‐Ataxia Working Group

Author

Caterina Tonon, Thiago Junqueira Ribeiro de Rezende, Christophe Lenglet, Wolfgang Nachbauer, Jörg B. Schulz, Kathrin Reetz, Christoph Scherfler, James M. Joers, Francesco Saccà, Gary F. Egan, Carlos R. Hernandez-Castillo, Marinela Vavla, Dagmar Timmann, Mario Mascalchi, Alberto R. M. Martinez, Sophia Göricke, Chiara Marzi, Paul M. Thompson, Imis Dogan, Sirio Cocozza, Giuseppe Pontillo, Stefania Evangelisti, David Neil Manners, Louise A. Corben, Pierre-Gilles Henry, Laura Ludovica Gramegna, Diane Hutter, Filippo Arrigoni, Ian H. Harding, Raffaele Lodi, Stefano Diciotti, Chiara Pane, Sophia I. Thomopoulos, Marcondes C. França, Andreas Deistung, Neda Jahanshad, Sandro Romanzetti, Pramod Kumar Pisharady, Andrea Martinuzzi, Ambra Stefani, Stefania Tirelli, Sylvia Boesch, Martin B. Delatycki, Sidhant Chopra, Denis Peruzzo, Arturo Brunetti, Nellie Georgiou-Karistianis, Claudia Testa, Harding I.H., Chopra S., Arrigoni F., Boesch S., Brunetti A., Cocozza S., Corben L.A., Deistung A., Delatycki M., Diciotti S., Dogan I., Evangelisti S., Franca M.C., Goricke S.L., Georgiou-Karistianis N., Gramegna L.L., Henry P.-G., Hernandez-Castillo C.R., Hutter D., Jahanshad N., Joers J.M., Lenglet C., Lodi R., Manners D.N., Martinez A.R.M., Martinuzzi A., Marzi C., Mascalchi M., Nachbauer W., Pane C., Peruzzo D., Pisharady P.K., Pontillo G., Reetz K., Rezende T.J.R., Romanzetti S., Sacca F., Scherfler C., Schulz J.B., Stefani A., Testa C., Thomopoulos S.I., Timmann D., Tirelli S., Tonon C., Vavla M., Egan G.F., and Thompson P.M.

Subjects
Adult, Male, Cerebellum, Ataxia, Medizin, Pyramidal Tracts, Grey matter, Young Adult, Image Processing, Computer-Assisted, Humans, Medicine, Pyramidal Tract, ddc:610, Age of Onset, business.industry, Brain, Voxel-based morphometry, Middle Aged, Spinal cord, Magnetic Resonance Imaging, Dentate nucleus, medicine.anatomical_structure, Neurology, Friedreich Ataxia, Brain size, Disease Progression, Female, Neurology (clinical), Brainstem, medicine.symptom, business, Neuroscience, Human
Abstract

Objective: Friedreich ataxia (FRDA) is an inherited neurological disease defined by progressive movement incoordination. We undertook a comprehensive characterization of the spatial profile and progressive evolution of structural brain abnormalities in people with FRDA. Methods: A coordinated international analysis of regional brain volume using magnetic resonance imaging data charted the whole-brain profile, interindividual variability, and temporal staging of structural brain differences in 248 individuals with FRDA and 262 healthy controls. Results: The brainstem, dentate nucleus region, and superior and inferior cerebellar peduncles showed the greatest reductions in volume relative to controls (Cohen d= 1.5–2.6). Cerebellar gray matter alterations were most pronounced in lobules I–VI (d= 0.8), whereas cerebral differences occurred most prominently in precentral gyri (d= 0.6) and corticospinal tracts (d= 1.4). Earlier onset age predicted less volume in the motor cerebellum (rmax= 0.35) and peduncles (rmax= 0.36). Disease duration and severity correlated with volume deficits in the dentate nucleus region, brainstem, and superior/inferior cerebellar peduncles (rmax= −0.49); subgrouping showed these to be robust and early features of FRDA, and strong candidates for further biomarker validation. Cerebral white matter abnormalities, particularly in corticospinal pathways, emerge as intermediate disease features. Cerebellar and cerebral gray matter loss, principally targeting motor and sensory systems, preferentially manifests later in the disease course. Interpretation: FRDA is defined by an evolving spatial profile of neuroanatomical changes beyond primary pathology in the cerebellum and spinal cord, in line with its progressive clinical course. The design, interpretation, and generalization of research studies and clinical trials must consider neuroanatomical staging and associated interindividual variability in brain measures. ANN NEUROL 2021;90:570–583.

Published
2021
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