Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and hereditary spastic paraplegia type 7 (SPG7) represent the most common genotypes of spastic ataxia (SPAX). To date, their magnetic resonance imaging (MRI) features have only been described qualitatively, and a pure neuroradiological differential diagnosis between these two conditions is difficult to achieve.
Objectives: To test the performance of MRI measures to discriminate between ARSACS and SPG7 (as an index of common SPAX disease).
Methods: In this prospective multicenter study, 3D-T1-weighted images of 59 ARSACS (35.4 ± 10.3 years, M/F = 33/26) and 78 SPG7 (54.8 ± 10.3 years, M/F = 51/27) patients of the PROSPAX Consortium were analyzed, together with 30 controls (45.9 ± 16.9 years, M/F = 15/15). Different linear and surface measures were evaluated. A receiver operating characteristic analysis was performed, calculating area under the curve (AUC) and corresponding diagnostic accuracy parameters.
Results: The pons area proved to be the only metric increased exclusively in ARSACS patients (P = 0.02). Other different measures were reduced in ARSACS and SPG7 compared with controls (all with P ≤ 0.005). A cut-off value equal to 1.67 of the pons-to-superior vermis area ratio proved to have the highest AUC (0.98, diagnostic accuracy 93%, sensitivity 97%) in discriminating between ARSACS and SPG7.
Conclusions: Evaluation of the pons-to-superior vermis area ratio can discriminate ARSACS from other SPAX patients, as exemplified here by SPG7. Hence, we hereby propose this ratio as the Magnetic Resonance Index for the Assessment and Recognition of patients harboring SACS mutations (MRI-ARSACS), a novel diagnostic tool able to identify ARSACS patients and useful for discriminating ARSACS from other SPAX patients undergoing MRI. © 2024 International Parkinson and Movement Disorder Society.
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http://dx.doi.org/10.1002/mds.29871 | DOI Listing |
Ann Neurol
December 2024
Division of Neuroscience, Mitochondrial Dysfunctions in Neurodegeneration, IRCCS Ospedale San Raffaele, Milan, Italy.
Objective: In autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) disease, severity and age of onset vary greatly, hindering to objectively measure and predict clinical progression. Thickening of the retinal nerve fiber layer is distinctive of ARSACS patients, as assessed by optical coherence tomography, whereas conventional brain magnetic resonance imaging findings include both supratentorial and infratentorial changes. Because longitudinal imaging studies in ARSACS patients are not available to define these changes as biomarkers of disease progression, we aimed to address this issue in the ARSACS mouse model.
View Article and Find Full Text PDFNeurology
December 2024
Division Translational Genomics of Neurodegenerative Diseases (L.B., A.T., D.M., M.S.), Hertie-Institute for Clinical Brain Research and Center for Neurology, and German Center for Neurodegenerative Diseases (DZNE) (L.B., A.T., D.M., K.D.-J., M.S., R.S.), University of Tübingen; Section Computational Sensomotorics (J.S., W.I.), Hertie Institute for Clinical Brain Research; Centre for Integrative Neuroscience (CIN) (J.S., W.I.); Department of Neurodegenerative Diseases (C.K.), Hertie-Institute for Clinical Brain Research and Center for Neurology, University of Tübingen; Center for Neurology and Hertie Institute for Clinical Brain Research (K.D.-J., R.S.), University Hospital Tübingen, Germany; Molecular Medicine (I.R., S.S.), IRCCS Fondazione Stella Maris, Pisa, Italy; Koç University (N.A.B.), Translational Medicine Research Center, KUTTAM-NDAL, Istanbul, Turkey; Sorbonne Université (G.C.), Paris Brain Institute, INSERM, CNRS, APHP, France; Department of Neurology and Center for Translational Neuro- and Behavioral Sciences (D.T.), University Hospital Essen, University of Duisburg-Essen, Germany; Groupe de recherche interdisciplinaire sur les maladies neuromusculaires (GRIMN) (C.G.), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean; Centre de recherche du Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-St-Jean (C.G.); Faculté de médecine et des sciences de la santé (C.G.), Université de Sherbrooke, Québec, Canada; Department of Neurology (B.P.C.v.d.W.), Radboud University Medical Center, Nijmegen, the Netherlands; and Division of Neurodegenerative Diseases (R.S.), Department of Neurology, Heidelberg University Hospital, Germany.
Clin Pharmacol Ther
December 2024
Pharmacometrics Research Group, Department of Pharmacy, Uppsala University, Uppsala, Sweden.
Mov Disord
December 2024
Suna and İnan Kıraç Foundation, Neurodegeneration Research Laboratory, KUTTAM, School of Medicine, Koç University, İstanbul, Turkey.
Background: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a common recessive ataxia that is still underdiagnosed worldwide. An easily accessible diagnostic biomarker might help to diagnostically confirm patients presenting SACS variants of unknown significance (VUS) or atypical phenotypes.
Objectives: To detect sacsin in peripheral blood mononuclear cells (PBMCs) and to validate its diagnostic biomarker quality to discriminate biallelic SACS patients (including patients with VUS and/or atypical phenotypes) against healthy controls, non-ARSACS spastic ataxia patients, and heterozygous SACS carriers.
BMC Neurol
September 2024
Department of Biotechnology and Genetic Engineering, Kohat University of Science and Technology, Kohat, 26000, Khyber Pakhtunkhwa, Pakistan.
Background: Hereditary Spastic Paraplegias (HSPs) and Hereditary Cerebellar Ataxias (HCAs) are progressive neurodegenerative disorders encompassing a spectrum of neurogenetic conditions with significant overlaps of clinical features. Spastic ataxias are a group of conditions that have features of both cerebellar ataxia and spasticity, and these conditions are frequently clinically challenging to distinguish. Accurate genetic diagnosis is crucial but challenging, particularly in resource-limited settings.
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