Cerebellar ataxia

OBJECTIVE: The lateral aspect of the cerebellomesencephalic fissure frequently harbors vascular pathology and is a common surgical corridor used to access the pons tegmentum, as well as the cerebellum and its superior and middle peduncles. The quadrangular lobule of the cerebellum (QLC) represents an obstacle to reach these structures. The authors sought to analyze and compare exposure of the cerebellar interpeduncular region (CIPR) before and after QLC resection and provide a case series to evaluate its clinical applicability...

Purkinje cell dysfunction disrupts movement and causes disorders such as ataxia. Recent evidence suggests that Purkinje cell dysfunction may also alter sleep regulation. Here, we used an ataxic mouse model generated by silencing Purkinje cell neurotransmission (L7Cre;Vgatfx/fx) to better understand how cerebellar dysfunction impacts sleep physiology. We focused our analysis on sleep architecture and electrocorticography (ECoG) patterns based on their relevance to extracting physiological measurements during sleep...

BACKGROUND: Core stability exercises (CSE) have been shown to be effective in improving trunk function in several neurological diseases, but the evidence is scarce on Hereditary Ataxias (HA). OBJECTIVE: To evaluate the effectiveness of a 5-week home-based CSE program in terms of ataxia severity, trunk function, balance confidence, gait speed, lower limb motor function, quality of life, health status and falls rate in HA individuals at short- and long-term. METHODS: This is an assessor-blind randomized controlled clinical trial parallel group 1:1...

No abstract text is available yet for this article.

The incidence of paraneoplastic syndrome (PNS) is on the rise, attributed to the growing detection of antibody modalities in both the serum and cerebrospinal fluid (CSF). PNS can occur as different neurological symptoms. The revised guidelines streamline the diagnostic approach but identifying PNS still requires the detection of neurological manifestations concurrent with cancer, along with the presence of specific PNS autoantibodies.

Repetitive transcranial magnetic stimulation (rTMS), a noninvasive neuroregulatory technique used to treat neurodegenerative diseases, holds promise for spinocerebellar ataxia type 3 (SCA3) treatment, although its efficacy and mechanisms remain unclear. This study aims to observe the short-term impact of cerebellar rTMS on motor function in SCA3 patients and utilize resting-state functional magnetic resonance imaging (RS-fMRI) to assess potential therapeutic mechanisms. Twenty-two SCA3 patients were randomly assigned to receive actual rTMS (AC group, n = 11, three men and eight women; age 32-55 years) or sham rTMS (SH group, n = 11, three men and eight women; age 26-58 years)...

Palatal tremor has been subdivided into essential (EPT) and symptomatic palatal tremor (SPT). Progressive ataxia and palatal tremor syndrome (PAPT) is a subgroup of symptomatic palatal tremor (SPT). It can be divided into familial and sporadic forms. Sporadic PAPT is characterized by progressive cerebellar degeneration. The cause of sporadic PAPT remains uncertain. MRI examination found an enlarged appearance of the olivary nuclei with increased signal intensity on T2 and FLAIR images. Here we report a case of a mid-adult-onset man which presents a worsening cerebellar progressive ataxia with palatal tremor, in whom imaging reveals abnormalities of the olivary nuclei with tardive cerebellar atrophy which has been diagnosed as a sporadic PAPT...

INTRODUCTION: Little is known about the longitudinal trajectory of brain growth in children with opsoclonus-myoclonus ataxia syndrome. We performed a longitudinal evaluation of brain volumes in pediatric opsoclonus-myoclonus ataxia syndrome patients compared with age- and sex-matched healthy children. PATIENTS AND METHODS: This longitudinal case-control study included brain magnetic resonance imaging (MRI) scans from consecutive pediatric opsoclonus-myoclonus ataxia syndrome patients (2009-2020) and age- and sex-matched healthy control children...

No abstract text is available yet for this article.

PURPOSE OF REVIEW: The increasing recognition and diagnosis of autoimmune encephalitis (AE) and paraneoplastic neurological syndromes (PNS) is partly due to neural autoantibody testing and discovery. The past two decades witnessed an exponential growth in the number of identified neural antibodies. This review aims to summarize recent rare antibody discoveries in the context of central nervous system (CNS) autoimmunity and evaluate the ongoing debate about their utility. RECENT FINDINGS: In the last 5 years alone 15 novel neural autoantibody specificities were identified...

BACKGROUND AND PURPOSE: Acute vestibular syndrome (AVS) typically manifests as isolated dizziness or vertigo with no apparent neurological impairments. However, distinguishing life-threatening stroke from innocuous peripheral vestibular lesions in the emergency room (ER) remains challenging. This study aimed to explore the ability of the head impulse-nystagmus-test of skew (HINTS) combined with truncal ataxia or ABCD2 score to differentiate stroke from peripheral vestibular disease in patients with AVS in the ER...

The cerebellum has been shown to be engaged in tasks other than motor control, including cognitive and affective functions. Prior neuroimaging studies have documented the role of this area in social cognition and despite these findings, no studies have yet examined the causal relationship between the cerebellum and social cognition. This study aimed to investigate the role of the cerebellum in empathy and theory of mind (ToM) in a randomized, placebo-controlled, double-blind, parallel study. 32 healthy participants were assigned to either a sham or active group...

Objective: To explore the clinical and genetic characteristics of asparagine synthase deficiency. Methods: Case series studies. Retrospective analysis and summary of the clinical data of 6 cases with asparagine synthase deficiency who were diagnosed by genetic testing and admitted to the Third Affiliated Hospital of Zhengzhou University from May 2017 to April 2023 were analyzed retrospectively. The main clinical features, laboratory and imaging examination characteristics of the 6 cases were summarized, and the gene variation sites of them were analyzed...

Mercury is a highly toxic heavy metal that may cause neurological, respiratory, gastrointestinal and dermatological illnesses. Previously described neurological manifestations of mercury toxicity are symmetrical, and include a pancerebellar syndrome, generalised seizures and encephalopathy. Mercury is used in the gold mining process, and in artisanal or illicit gold mining, often without necessary protection. Here we describe the cases of two artisanal gold miners from western Johannesburg, South Africa, who presented with atypical neurological manifestations of mercury toxicity...

BACKGROUND: Autoimmune nodopathy (AN) has emerged as a novel diagnostic category that is pathologically different from classic chronic inflammatory demyelinating polyneuropathy. Clinical manifestations of AN include sensory or motor neuropathies, sensory ataxia, tremor, and cranial nerve involvement. AN with a serum-positive contactin-1 (CNTN1) antibody usually results in peripheral nerve demyelination. In this study, we reported a rare case of AN with CNTN1 antibodies characterized by the presence of CNTN1 antibodies in both serum and cerebrospinal fluid, which is associated with cerebellar dysarthria...

Superficial siderosis is a disease in which hemosiderin is deposited under the leptomeninges and subpial layers of hindbrain structures, e.g., the cerebellum, brainstem, and eighth cranial nerve. The main symptoms of superficial siderosis are cerebellar ataxia, hearing loss, cognitive decline, and myelopathy. The activities of daily living of patients with superficial siderosis are severely impaired due to the progressive symptoms. Here, we report a patient with superficial siderosis whose symptoms deteriorated after lumbar subarachnoid-peritoneal (L-P) shunt surgery...

A 75-year-old woman was referred to our department in October 2022 with ataxia and involuntary movements of the right upper and lower limbs. She had experienced a left pontine hemorrhage in March 2021, which was managed conservatively. However, she had residual right-sided hemiplegia. In addition, she had cerebellar ataxia and a 2 ‍Hz resting tremor of the right upper and lower limbs, which was enhanced while maintaining posture and contemplation. Based on her history, and the findings of MRI and nuclear medicine imaging, we diagnosed the patient with Holmes tremor due to pontine hemorrhage...

OBJECTIVE: To describe the approach for placement of a transcerebellar fourth ventriculoperitoneal shunt for management of presumed fourth ventricle arachnoid diverticulum and secondary obstructive hydrocephalus of a dog. To describe the outcome of this procedure. STUDY DESIGN: Case report. ANIMALS: Male entire English springer spaniel, 3 years 9 months of age. METHODS: The dog was initially presented for management of acute, progressive, and multifocal brainstem and forebrain dysfunction...

OBJECTIVE: Ibogaine is a hallucinogenic drug that may be used to treat opioid use disorder (OUD). The relationships between pharmacokinetics (PKs) of ibogaine and its metabolites and their clinical effects on side effects and opioid withdrawal severity are unknown. We aimed to study these relationships in patients with OUD undergoing detoxification supported by ibogaine. METHODS: The study was performed in 14 subjects with OUD. They received a single dose of 10mg/kg ibogaine hydrochloride...

BACKGROUND: An intronic GAA repeat expansion in FGF14 was recently identified as a cause of GAA-FGF14 ataxia. We aimed to characterise the frequency and phenotypic profile of GAA-FGF14 ataxia in a large Chinese ataxia cohort. METHODS: A total of 1216 patients that included 399 typical late-onset cerebellar ataxia (LOCA), 290 early-onset cerebellar ataxia (EOCA), and 527 multiple system atrophy with predominant cerebellar ataxia (MSA-c) were enrolled. Long-range and repeat-primed PCR were performed to screen for GAA expansions in FGF14...