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A rare additional lobe of cerebellum, projecting from its superior surface

Nayak SB, Sumalatha S, Shetty SD

Human cerebellum plays a vital role in motor coordination, regulation of muscle tone and maintaining the equilibrium of the body. It seldom shows anatomical/morphological variations. Herein, we report the presence...
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Treatable Ataxias: How to Find the Needle in the Haystack?

Stezin A, Pal PK

Treatable ataxias are a group of ataxic disorders with specific treatments. These disorders include genetic and metabolic disorders, immune-mediated ataxic disorders, and ataxic disorders associated with infectious and parainfectious etiology,...
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Epidemiological investigation of equine hindlimb ataxia with Setaria digitata in South Korea

Hwang H, Ro Y, Lee H, Kim J, Lee K, Choi EJ, Bae YC, So B, Kwon D, Kim H, Lee I

Background: Since 2013, the number of requests for diagnosis for horses based on neurological symptoms has increased rapidly in South Korea. The affected horses have commonly exhibited symptoms of acute...
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Autoantibody Encephalitis: Presentation, Diagnosis, and Management

Lancaster E

Autoantibody encephalitis causes distinct clinical syndromes involving alterations in mentation, abnormal movements, seizures, psychiatric symptoms, sleep disruption, spasms, and neuromyotonia. The diagnoses can be confirmed by specific antibody tests, although...
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Expanding the Clinical Spectrum of RFC1 Gene Mutations

Kulshreshtha D, Ganguly J, Jog M

Biallelic intronic repeat expansion in the replication factor complex unit 1 (RFC1) gene has recently been described as a cause of late onset ataxia with degeneration of the cerebellum, sensory...
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Two Korean siblings with autosomal recessive spinocerebellar ataxia 20 caused by homozygous variants in SNX14

Kim AR, Lee JM, Seo GH, Lee SI, Bae H, Lee YJ

Autosomal recessive spinocerebellar ataxia 20 (SCAR20; OMIM #616354) is a recently described disorder that is characterized by ataxia, intellectual disability, cerebellar atrophy, macrocephaly, coarse face, and absent speech. It is...
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Versatile Role of  18 F-FDG PET/CT in a Patient with Pan-cerebellar Paraneoplastic Manifestation Due to Underlying Hodgkin’s Lymphoma

Aggarwal P,  Kavanal A, Singh H, Kumar R,  Ranjan R,  Baishya J, Bhattacharya A

Hodgkin’s lymphoma most commonly presents as painless lymphadenopathy and systemic B symptoms like fever, night sweats, and weight loss. But rarely, it can present with unusual paraneoplastic manifestations. In the...
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Steroid-Responsive Encephalopathy Associated with Autoimmune Thyroiditis (SREAT) Mimicking Pure Cerebellar Ataxia

Kim YE, Eom HJ, Kim HK, Kim JH

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Role of Cortico-ponto-cerebellar Tract from Supplementary Motor Area in Ataxic Hemiparesis of Supratentorial Stroke Patients

Ko N, Lee HH, Kim K, Kim BR, Moon WJ, Lee J

Cortical lesions of the supplementary motor area (SMA) are important in balance control and postural recovery in stroke patients, while the role of subcortical lesions of the SMA has not...
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Clinical and Imaging Profile of Patients with Joubert Syndrome

Surisetti BK, Holla VV, Prasad S, Neeraja K, Kamble N, Yadav R, Pal PK

Objective Joubert syndrome (JS) is a rare syndrome characterized by ataxia and the molar tooth sign (MTS) on imaging. The present study aims to explore the clinical and radiological features...
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Lambert-Eaton Myasthenic Syndrome Presenting as Cerebellar Symptoms

Song S, Cho J, Jeong SH

A 79-year-old man visited neurology clinic due to gait ataxia and vertigo for 10 months. Neurologic examination revealed saccadic pursuit, mild dysmetria, impaired tandem gait, and areflexia that recovers after...
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Clinical Characteristics and Effects of Steroid Therapy in Children with Acute Cerebellar Ataxia

Lee JY, Moon JU, Yoon DH, Han JY, Lee IG

Purpose: Acute cerebellar ataxia (ACA) is characterized by unsteady gait and instability of the trunk, and is caused by secondary autoimmune responses to infection or vaccination in healthy children. Although...
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Myoclonus-Ataxia Syndrome Associated with COVID-19

Shetty K, Jadhav AM, Jayanthakumar R, Jamwal S, Shanubhogue T, Reddy MP, Dash GK, Manohar R, Philip VJ, Huded V

Neurological manifestations of coronavirus disease (COVID-19) have increasingly been reported since the onset of the pandemic. Herein, we report a relatively new presentation. A patient in the convalescence period following...
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Extracerebellar Signs and Symptoms in 117 Korean Patients with Early-Stage Spinocerebellar Ataxia

Kim M, Ahn JH, Mun JK, Choi EH, Kim JS, Youn J, Cho JW

Background and Purpose Spinocerebellar ataxias (SCAs) are the most common form of hereditary ataxias. Extracerebellar signs have been well described and are helpful in differentiating the SCA subtypes. However, there...
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Clinical, Imaging, and Laboratory Markers of Premanifest Spinocerebellar Ataxia 1, 2, 3, and 6: A Systematic Review

Kim DH, Kim R, Lee JY, Lee KM

Background and Purpose Premanifest mutation carriers with spinocerebellar ataxia (SCA) can exhibit subtle abnormalities before developing ataxia. We summarized the preataxic manifestations of SCA1, -2, -3, and -6, and their...
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Mutant IDH1 Enhances Temozolomide Sensitivity via Regulation of the ATM/CHK2 Pathway in Glioma

Lin L, Cai J, Tan Z, Meng X, Li R, Li Y, Jiang C

Purpose Isocitrate dehydrogenase 1 (IDH1) mutations are the most common genetic abnormalities in low-grade gliomas and secondary glioblastomas. Glioma patients with these mutations had better clinical outcomes. However, the effect of...
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A Case of Spinocerebellar Ataxia Type 28

Choi JH, Oh EH, Choi SY, Choi KD

Spinocerebellar ataxia type 28 (SCA 28) is characterized by young-adult onset, very slowly progressive gait and limb ataxia, dysarthria, nystagmus, ptosis, and ophthalmoplegia. It is caused by a heterozygous pathogenic...
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Immune-Mediated Cerebellar Ataxias: Clinical Diagnosis and Treatment Based on Immunological and Physiological Mechanisms

Mitoma H, Manto M, Hadjivassiliou M

Since the first description of immune-mediated cerebellar ataxias (IMCAs) by Charcot in 1868, several milestones have been reached in our understanding of this group of neurological disorders. IMCAs have diverse...
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Mirogabalin: could it be the next generation gabapentin or pregabalin?

Kim JY, Abdi S, Huh B, Kim KH

Except for carbamazepine for trigeminal neuralgia, gabapentinoid anticonvulsants have been the standard for the treatment of neuropathic pain. Pregabalin, which followed gabapentin, was developed with the benefit of rapid peak...
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New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia

Saathoff Y, Biskup S, Funke C, Roth C

The genetic testing of hereditary ataxias includes screening for CAG-repeat expansions as well as pathogenic variants and nontranslated oligonucleotide expansion, which can cause spinocerebellar ataxia (SCA). Genotype-phenotype correlations of several...
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