We present a case of slowly progressive gait ataxia with a 16-year history in an 87-year-old woman. In 1994 she became aware of a slight unsteadiness while walking and cortical cerebellar atrophy was diagnosed. She had no familial history of neurological disorders. In 2007, idiopathic thrombocytopenic purpura (ITP) was diagnosed. The symptoms gradually worsened, and she was admitted in 2010 because she could not walk without support. MRI voxel-based morphometry (VBM) imaging showed atrophy of the entire cerebellum, and SPECT using eZIS showed reduced perfusion in the same regions. Her blood was positive for both anti-TPO antibody (42 IU/ml) and anti-gliadin antibody (20.2 EU). We therefore diagnosed autoimmune cerebellar atrophy. The patient showed a positive response to intravenous immunoglobulins (IVIg) and regained the ability to walk unassisted. Her posture and gait disturbance scores on the International Cooperative Ataxia Rating Scale had improved from 20 to 9. Even 16 years after onset, intravenous immunoglobulins were effective. In cases of prolonged disease, immunotherapy can be effective in autoimmune cerebellar atrophy and should not be excluded from the treatment choices.
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http://dx.doi.org/10.5692/clinicalneurol.52.351 | DOI Listing |
Neurol Sci
January 2025
Department of Neurology, Baotou Central Hospital, Baotou, Inner Mongolia, China.
Objectives: Ataxia is a common symptom in patients with Cerebellar subtype of Multiple system atrophy (MSA-C), but effective treatments remain elusive. The present study aims to investigate whether repetitive transcranial magnetic stimulation (rTMS) over the bilateral cerebellum could relieve ataxia in patients with MSA-C.
Patients And Methods: This is a single-center, randomized and double-blind trial.
Front Neurol
January 2025
Department of Radiology, The First Affiliated Hospital of Guangzhou University of Chinese Medicine, Guangzhou, China.
Objective: To investigate the altered characteristics of cortical morphology and individual-based morphological brain networks in type 2 diabetes mellitus (T2DM), as well as the neural network mechanisms underlying cognitive impairment in T2DM.
Methods: A total of 150 T2DM patients and 130 healthy controls (HCs) were recruited in this study. The study used voxel- and surface-based morphometric analyses to investigate morphological alterations (including gray matter volume, cortical thickness, cortical surface area, and localized gyrus index) in the brains of T2DM patients.
AJNR Am J Neuroradiol
January 2025
From the Department of Neurology, the First Hospital of Jilin University, Changchun, Jilin Province, China.
Background And Purpose: Differentiating Parkinson's Disease (PD) from Atypical Parkinsonism Syndrome (APS), including Multiple System Atrophy (MSA) and Progressive Supranuclear Palsy (PSP), is challenging, and there is no gold standard. Integrating quantitative susceptibility mapping (QSM) and morphometry can help differentiate PD from APS and improve the internal diagnosis of APS.
Materials And Methods: In this retrospective study, we enrolled 55 patients with PD, 17 with MSA-parkinsonian type (MSA-P), 15 with MSA-cerebellar type (MSA-C), and 14 with PSP.
Heliyon
January 2025
Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
We report a case of a Chinese girl who presented with multiple seizure types of epilepsy, followed by motor and intellectual regression, vision impairment, and cerebral and cerebellar atrophy. She carries an unreported compound heterozygous variant of the ASAH1 gene and is diagnosed with spinal muscular atrophy associated with progressive myoclonic epilepsy (SMA-PME), a disorder in which ceramide accumulation in lysosomes due to a decrease in acid ceramidase activity. This case suggests attention to this rare class of deceases involving both the central and peripheral nervous systems.
View Article and Find Full Text PDFNPJ Parkinsons Dis
January 2025
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Biallelic intronic pentanucleotide repeat expansions, mainly (AAGGG)exp and/or (ACAGG)exp in RFC1, are detected in cerebellar ataxia, neuropathy and vestibular areflexia syndrome, late-onset ataxia, and in a wide disease spectrum including Charcot-Marie-Tooth disease, multiple system atrophy, and Parkinson's disease (PD). However, the genotype-phenotype correlation and underlying mechanism are mostly unknown. We screened RFC1-repeat expansions in 1445 patients with parkinsonism.
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