Purpose: To assess and compare biochemical and volumetric features of the cerebellum in patients with spinocerebellar ataxia type 2 (SCA2) and patients with the cerebellar variant of multiple system atrophy (MSA-C).
Materials And Methods: Nine genetically assigned SCA2 patients and six MSA-C patients who met the clinical criteria of MSA-C underwent a clinical and neuroradiological workup with respect to cerebellar features. The MR protocol consisted of a sagittal T1-weighted three-dimensional fast low-angle shot (3D FLASH) sequence and a transversal T2- and spin-density-weighted turbo spin-echo sequence. The proton magnetic resonance spectroscopic imaging ((1)H-MRSI) protocol consisted of two chemical shift imaging (CSI) sequences (echo time (TE) = 20 and 135 msec).
Results: Both short- and long-TE MR spectroscopy (MRS) images showed significant decreases in values for N-acetylaspartate to creatine (NAA/Cr), and choline to creatine (Cho/Cr) ratios in MSA-C and SCA2 compared to normal controls, though there was no difference between the two patient groups. In contrast, distinct cerebellar lactate (Lac) peaks were detected in seven SCA2 patients, and small peaks were detected in two. However, we did not detect any definite Lac peak in MSA-C or control subjects.
Conclusion: MRSI revealed Lac pathology in SCA2 but not in MSA-C. Whether this indicates distinct pathogenetic mechanisms of cerebellar degeneration remains to be established.
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http://dx.doi.org/10.1002/jmri.20846 | DOI Listing |
J Neurol
January 2025
Neurological Institute, Department of Clinical and Experimental Medicine, University of Pisa, Pisa, Italy.
Objective: This study aims to evaluate our experience in the diagnosis of hereditary ataxias (HAs), to analyze data from a real-world scenario.
Study Design: This is a retrospective, cross-sectional, descriptive study conducted at a single Italian adult neurogenetic outpatient clinic, in 147 patients affected by ataxia with a suspicion of hereditary forms, recruited from November 1999 to February 2024. A stepwise approach for molecular diagnostics was applied: targeted gene panel (TP) next-generation sequencing (NGS) and/or clinical exome sequencing (CES) were performed in the case of inconclusive first-line genetic testing, such as short tandem repeat expansions (TREs) testing for most common spinocerebellar ataxias (SCA1-3, 6-8,12,17, DRPLA), other forms [Fragile X-associated tremor/ataxia syndrome (FXTAS), Friedreich ataxia (FRDA) and mitochondrial DNA-related ataxia, RFC1-related ataxia/CANVAS] or inconclusive phenotype-guided specific single gene sequencing.
Eur J Neurol
January 2025
Institut du Cerveau-Paris Brain Institute ICM, Sorbonne Université, Inserm 1127, CNRS 7225, Hôpital de la Pitié Salpêtrière Paris, Paris, France.
Objective: Spinocerebellar ataxias (SCA) are neurodegenerative diseases with widespread lesions across the central nervous system. Ataxia and spasticity are usually predominant, but patients may also present with parkinsonism. We aimed to characterize substantia nigra pars compacta (SNc) degeneration in SCA2 and 7 using neuromelanin-sensitive imaging.
View Article and Find Full Text PDFJ Neurol
December 2024
Faculdade de Ciências Médicas da UNICAMP, Departamento de Neurologia da FCM/UNICAMP, Department of Neurology, Universidade Estadual de Campinas, University of Campinas, Cidade Universitária s/n Caixa Postal, 6111 Barão Geraldo, 13083970, Campinas, SP, Brasil.
Background: Spinocerebellar ataxias (SCAs) are a group of neurodegenerative disorders characterized by progressive ataxia. Although previous studies have focused on cerebral and cerebellar damage, spinal cord involvement in SCAs remains underexplored.
Objectives: This study aims to characterize spinal cord abnormalities in SCA2, SCA3, and SCA6 and to identify its phenotypic correlates.
Cerebellum
December 2024
Department of Neurology, The First Affiliated Hospital, Sun Yat-sen University; Guangdong Provincial Key Laboratory of Diagnosis and Treatment of Major Neurological Diseases; National Key Clinical Department and Key Discipline of Neurology, No.58 Zhongshan Road 2, Guangzhou, 510080, China.
The use of F-wave study may help to gain insight into electrophysiological significance of spinocerebellar Ataxias (SCAs). Particularly, the difference of F-wave features between Chinese SCA1, SCA2 and SCA3 patients were scarcely reported. 20 SCA1, 20 SCA2, 46 SCA3 patients and 30 healthy controls underwent nerve (median, ulnar, tibial) conduction and F-wave studies, and electrophysiology parameters were compared between them.
View Article and Find Full Text PDFCerebellum
December 2024
Department of Radiology, The First Affiliated Hospital, Sun Yat-Sen University, 58th, The Second Zhongshan Road, Guangzhou, 518000, Guangdong, People's Republic of China.
Spinocerebellar ataxias (SCAs) types 1, 2, and 3 are the most common subtypes of SCAs. However, the atrophy patterns of these three subtypes still need to be fully clarified. In this study, a total of 130 genetically confirmed SCA patients (SCA1: n = 16; SCA2: n = 13; symptomatic SCA3: n = 76; pre-symptomatic SCA3: n = 25) along with 65 age- and sex-matched healthy controls (HCs) were enrolled.
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