A Case of Autosomal Dominant Hypocalcemia Presenting with Parkinsonism and Widespread Brain Calcifications
Objective: To describe a case of CASR mutation-related hypocalcemia presenting with progressive movement disorder, cognitive decline, and widespread brain calcifications, illustrating the overlap between metabolic and neurodegenerative disorders.…Clinical case of cerebellar ataxia associated with temporal bone tumor
Objective: To describe a clinical case of tumor-induced cerebellar ataxia in an elderly patient. Background: Ataxia can result from various etiologies, including neurodegenerative diseases, stroke,…Hypothalamic Atrophy in CANVAS/RFC1
Objective: We aimed to investigate hypothalamic volumetry in CANVAS/RFC1. Background: Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) is now recognized as a late-onset multisystem…Anti Yo-1 Antibody Syndrome: A Case Study of a Paraneoplastic Syndrome Mimicking Atypical Parkinsonism
Objective: To report the case of a patient with anti Yo-1 antibody syndrome mimicking clinically and radiologically as an atypical parkinsonism. Background: The anti Yo-1…Spinocerebellar Ataxia Type 17 First Reported Case in Northern Mexico
Objective: To report the first documented case of spinocerebellar ataxia type 17 (SCA17) in northern Mexico. Background: SCA17 is an autosomal dominant neurodegenerative disorder caused…Unusual presentation of POLR3A-associated leukodystrophy – two cases reported
Objective: Presentation of two patients with different clinical manifestations of a POLR3A-related leukodystrophy (NM_007055.4) Background: POLR3A related leukodystrophy is an autosomal recessive disease caused by…Natural history and epidemiological study of multiple system atrophy in Hokkaido: HoRC-MSA 2014-2025
Objective: To investigate epidemiological information of multiple system atrophy (MSA) patients in Hokkaido, Japan by using the registry data from the Hokkaido Rare-disease Consortium for…Adult-onset ataxia with oculomotor apraxia type 4 with severe hypoalbuminemia, generalized edema and obesity
Objective: To report a 45-years-old Swedish man born to non-consanguineous parents affected by an adult-onset syndrome that included insidious pain at onset, hypoalbuminemia, edema, severe…Educational Innovation of Cerebellum and Ataxia Curriculum for Neurology Residents
Objective: New education method with resident as educator supervised by movement specialists to improve the knowledge and clinical skills of neurology residents in diagnosing and…Characterizing the Patient Clinical Journey Before and After Diagnosis of Friedreich Ataxia and Differences by Age at Diagnosis
Objective: To characterize the patient journey through clinical specialties involved in the intermediate-to-late age at diagnosis of adult patients with Friedreich ataxia (FA) based on…
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