Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I, Pearlman S, Starkman S, Orozco-Diaz G, Lunkes A, DeJong P, Rouleau GA, Auburger G, Korenberg JR, Figueroa C, Sahba S (1996) Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 14:269–276

Article  CAS  PubMed  Google Scholar 

Schols L, Amoiridis G, Buttner T, Przuntek H, Epplen JT, Riess O (1997) Autosomal dominant cerebellar ataxia: phenotypic differences in genetically defined subtypes? Ann Neurol 42:924–932

Article  CAS  PubMed  Google Scholar 

Auburger GW (2012) Spinocerebellar ataxia type 2. Handb Clin Neurol 103:423–436

Article  PubMed  Google Scholar 

Klockgether T, Mariotti C, Paulson HL (2019) Spinocerebellar ataxia. Nat Rev Dis Primers 5:24

Article  PubMed  Google Scholar 

Estrada R, Galarraga J, Orozco G, Nodarse A, Auburger G (1999) Spinocerebellar ataxia 2 (SCA2): morphometric analyses in 11 autopsies. Acta Neuropathol 97:306–310

Article  CAS  PubMed  Google Scholar 

Pang JT, Giunti P, Chamberlain S, An SF, Vitaliani R, Scaravilli T, Martinian L, Wood NW, Scaravilli F, Ansorge O (2002) Neuronal intranuclear inclusions in SCA2: a genetic, morphological and immunohistochemical study of two cases. Brain 125:656–663

Article  PubMed  Google Scholar 

Werner P, Barthel H, Drzezga A, Sabri O (2015) Current status and future role of brain PET/MRI in clinical and research settings. Eur J Nucl Med Mol Imaging 42:512–526

Article  CAS  PubMed  Google Scholar 

Mascalchi M, Diciotti S, Giannelli M, Ginestroni A, Soricelli A, Nicolai E, Aiello M, Tessa C, Galli L, Dotti MT, Piacentini S, Salvatore E, Toschi N (2014) Progression of brain atrophy in spinocerebellar ataxia type 2: a longitudinal tensor-based morphometry study. PLoS ONE 9:e89410

Article  PubMed  PubMed Central  Google Scholar 

Mercadillo RE, Galvez V, Diaz R, Hernandez-Castillo CR, Campos-Romo A, Boll MC, Pasaye EH, Fernandez-Ruiz J (2014) Parahippocampal gray matter alterations in Spinocerebellar Ataxia Type 2 identified by voxel based morphometry. J Neurol Sci 347:50–58

Article  PubMed  Google Scholar 

Della Nave R, Ginestroni A, Tessa C, Cosottini M, Giannelli M, Salvatore E, Sartucci F, De Michele G, Dotti MT, Piacentini S, Mascalchi M (2008) Brain structural damage in spinocerebellar ataxia type 2. A voxel-based morphometry study. Mov Disord 23:899–903

Article  PubMed  Google Scholar 

Nigri A, Sarro L, Mongelli A, Pinardi C, Porcu L, Castaldo A, Ferraro S, Grisoli M, Bruzzone MG, Gellera C, Taroni F, Mariotti C, Nanetti L (2020) Progression of cerebellar atrophy in spinocerebellar ataxia Type 2 gene carriers: A longitudinal MRI study in preclinical and early disease stages. Front Neurol 11:616419

Article  PubMed  PubMed Central  Google Scholar 

Hernandez-Castillo CR, Galvez V, Mercadillo R, Diaz R, Campos-Romo A, Fernandez-Ruiz J (2015) Extensive white matter alterations and its correlations with ataxia severity in SCA 2 patients. PLoS ONE 10:e0135449

Article  PubMed  PubMed Central  Google Scholar 

Mascalchi M, Toschi N, Giannelli M, Ginestroni A, Della Nave R, Nicolai E, Bianchi A, Tessa C, Salvatore E, Aiello M, Soricelli A, Diciotti S (2015) Progression of microstructural damage in spinocerebellar ataxia type 2: a longitudinal DTI study. AJNR Am J Neuroradiol 36:1096–1101

Article  CAS  PubMed  PubMed Central  Google Scholar 

Baykara E, Gesierich B, Adam R, Tuladhar AM, Biesbroek JM, Koek HL, Ropele S, Jouvent E, Alzheimer’s Disease Neuroimaging I, Chabriat H, Ertl-Wagner B, Ewers M, Schmidt R, de Leeuw FE, Biessels GJ, Dichgans M, Duering M (2016) A novel imaging marker for small vessel disease based on skeletonization of white matter tracts and diffusion histograms. Ann Neurol 80:581–592

Article  PubMed  Google Scholar 

Vinciguerra C, Giorgio A, Zhang J, Di Donato I, Stromillo ML, Tappa Brocci R, Federico A, Dotti MT, De Stefano N (2019) Peak width of skeletonized mean diffusivity (PSMD) as marker of widespread white matter tissue damage in multiple sclerosis. Mult Scler Relat Disord 27:294–297

Article  CAS  PubMed  Google Scholar 

Chylinska M, Karaszewski B, Komendzinski J, Wyszomirski A, Sabisz A, Halas M, Szurowska E (2022) Skeletonized mean diffusivity and neuropsychological performance in relapsing-remitting multiple sclerosis. Brain Behav 12:e2591

Article  CAS  PubMed  PubMed Central  Google Scholar 

Filla A, DeMichele G, Caruso G, Marconi R, Campanella G (1990) Genetic data and natural history of Friedreich’s disease: a study of 80 Italian patients. J Neurol 237:345–351

Article  CAS  PubMed  Google Scholar 

Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B (1997) International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 145:205–211

Article  CAS  PubMed  Google Scholar 

Stezin A, Bhardwaj S, Khokhar S, Hegde S, Jain S, Bharath RD, Saini J, Pal PK (2021) In vivo microstructural white matter changes in early spinocerebellar ataxia 2. Acta Neurol Scand 143:326–332

Article  CAS  PubMed  Google Scholar 

Tu Y, Li Z, Xiong F, Gao F (2024) Progressive white matter degeneration in patients with spinocerebellar ataxia type 2. Neuroradiology 66:101–108

Article  PubMed  Google Scholar 

Olivito G, Lupo M, Iacobacci C, Clausi S, Romano S, Masciullo M, Molinari M, Cercignani M, Bozzali M, Leggio M (2017) Microstructural MRI basis of the cognitive functions in patients with spinocerebellar ataxia type 2. Neuroscience 366:44–53

Article  CAS  PubMed  Google Scholar 

Grech-Sollars M, Hales PW, Miyazaki K, Raschke F, Rodriguez D, Wilson M, Gill SK, Banks T, Saunders DE, Clayden JD, Gwilliam MN, Barrick TR, Morgan PS, Davies NP, Rossiter J, Auer DP, Grundy R, Leach MO, Howe FA, Peet AC, Clark CA (2015) Multi-centre reproducibility of diffusion MRI parameters for clinical sequences in the brain. NMR Biomed 28:468–485

Article  PubMed  PubMed Central  Google Scholar 

Cercignani M, Bammer R, Sormani MP, Fazekas F, Filippi M (2003) Inter-sequence and inter-imaging unit variability of diffusion tensor MR imaging histogram-derived metrics of the brain in healthy volunteers. AJNR Am J Neuroradiol 24:638–643

PubMed  PubMed Central  Google Scholar 

Zanon Zotin MC, Yilmaz P, Sveikata L, Schoemaker D, van Veluw SJ, Etherton MR, Charidimou A, Greenberg SM, Duering M, Viswanathan A (2023) Peak width of skeletonized mean diffusivity: A neuroimaging marker for white matter injury. Radiology 306:e212780

Article  PubMed  Google Scholar 

Mascalchi M, Marzi C, Giannelli M, Ciulli S, Bianchi A, Ginestroni A, Tessa C, Nicolai E, Aiello M, Salvatore E, Soricelli A, Diciotti S (2018) Histogram analysis of DTI-derived indices reveals pontocerebellar degeneration and its progression in SCA2. PLoS ONE 13:e0200258

Article  PubMed  PubMed Central  Google Scholar 

Della Nave R, Ginestroni A, Tessa C, Salvatore E, De Grandis D, Plasmati R, Salvi F, De Michele G, Dotti MT, Piacentini S, Mascalchi M (2008) Brain white matter damage in SCA1 and SCA2. An in vivo study using voxel-based morphometry, histogram analysis of mean diffusivity and tract-based spatial statistics. Neuroimage 43:10–19

Article  PubMed  Google Scholar 

Della Nave R, Foresti S, Tessa C, Moretti M, Ginestroni A, Gavazzi C, Guerrini L, Salvi F, Piacentini S, Mascalchi M (2004) ADC mapping of neurodegeneration in the brainstem and cerebellum of patients with progressive ataxias. Neuroimage 22:698–705

Article  PubMed  Google Scholar 

Guerrini L, Lolli F, Ginestroni A, Belli G, Della Nave R, Tessa C, Foresti S, Cosottini M, Piacentini S, Salvi F, Plasmati R, De Grandis D, Siciliano G, Filla A, Mascalchi M (2004) Brainstem neurodegeneration correlates with clinical dysfunction in SCA1 but not in SCA2. A quantitative volumetric, diffusion and proton spectroscopy MR study. Brain 127:1785–1795

Article  CAS  PubMed  Google Scholar 

Jacobi H, Reetz K, du Montcel ST, Bauer P, Mariotti C, Nanetti L, Rakowicz M, Sulek A, Durr A, Charles P, Filla A, Antenora A, Schols L, Schicks J, Infante J, Kang JS, Timmann D, Di Fabio R, Masciullo M, Baliko L, Melegh B, Boesch S, Burk K, Peltz A, Schulz JB, Dufaure-Gare I, Klockgether T (2013) Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol 12:650–658

Article  PubMed