Project description:Background:Cerebrotendinous xanthomatosis is a rare autosomal recessive neurometabolic disorder characterized by chronic diarrhea, tendon xanthomas, juvenile cataracts, and neurological symptoms. Case Report:An adult patient with cerebrotendinous xanthomatosis exhibited ataxia and palatal tremor in the absence of tendon xanthomas and cataracts. Discussion:The importance of this case resides on the fact that cerebrotendinous xanthomatosis should be considered as a possible etiology of the syndrome of progressive ataxia with palatal tremor, even in the absence of tendon xanthomas and cataracts. Early diagnosis is critical to the institution of specific treatment with chenodeoxycholic acid.

| S-EPMC6026278 | biostudies-literature

Palatal Tremor with Progressive Ataxia Secondary to A Dural Arteriovenous Fistula.

Project description: Not available

| S-EPMC6476593 | biostudies-literature

Clinico-Pathological Correlation in Progressive Ataxia and Palatal Tremor: A Novel Tauopathy.

Project description:Palatal tremor (PT) is an uncommon movement disorder that has been subdivided into essential and symptomatic forms. A distinct subgroup of the symptomatic form presents with progressive ataxia and PT. The histopathology of progressive ataxia and PT has not been previously determined. This study consisted of a clinical review, histopathology, and electron microscopy of the brain of a man with progressive ataxia and PT. The inferior olivary hypertrophy was symmetrical and homogenous, and no focal pathologic lesions could be identified in the brainstem. Insoluble tau deposits were found in neurons, exclusively infratentorially. We present the clinical and pathological evaluation of a case of progressive ataxia and PT that provide evidence for a unique form of 4R tauopathy.

| S-EPMC6183254 | biostudies-literature

A Syndrome of Progressive Ataxia and Palatal Tremor (PAPT) in a Patient with Hypertrophic Olivary Degeneration.

Project description: Not available

| S-EPMC7313615 | biostudies-literature

Tremor-Predominant Fragile X-Associated Tremor/Ataxia Syndrome in a Female.

Project description: Not available

| S-EPMC6353491 | biostudies-literature

A Case of Fragile-X-Associated Tremor/Ataxia Syndrome Without Tremor.

Project description: Not available

| S-EPMC10471555 | biostudies-literature

Palatal Tremor in Amyotrophic Lateral Sclerosis.

Project description: Not available

| S-EPMC7604669 | biostudies-literature

Women with Fragile X-associated Tremor/Ataxia Syndrome.

Project description:BackgroundFragile X-associated tremor and ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder linked to the FMR1 premutation.ObjectivesFXTAS in women is far less common than in men, and this study represents the largest sample reported to date.MethodsA total of 53 female premutation carriers with FXTAS (meanage, 66.83 years; FXTAS stages 2-5) and 55 age-matched and demographic background-matched control participants (meanage, 61.94 years) underwent a comprehensive molecular, physiological, neuropsychological, and psychiatric assessment.ResultsThe large sample of female premutation carriers showed a wide range of variability of clinical signs and symptom progression. The imaging results showed a middle cerebellar peduncles sign in only 6 patients; another symptom included high-signal intensity in the splenium of the corpus callosum, and diffuse cerebral deep white matter changes (e.g., in the pons) are more common. The rate of psychiatric disorders, especially depression, is higher than in the general population. There is a clear impairment in executive functioning and fine motor skills in connection with a higher FXTAS stage.ConclusionsThe manifestation of FXTAS symptoms in female carriers can be diverse with a milder phenotype and a lower penetrance than those observed in male premutation carriers. The middle cerebellar peduncles sign is present in only a small percentage of the sample, and we propose that the imaging criteria for FXTAS in women need to be expanded.

| S-EPMC7604678 | biostudies-literature

Tremorography in fragile X-associated tremor/ataxia syndrome, Parkinson's disease and essential tremor.

Project description:BackgroundFragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease affecting carriers of a 55-200 CGG repeat in the fragile X mental retardation 1 gene, may receive an initial diagnosis of Parkinson's disease (PD) or essential tremor (ET) due to overlapping motor symptoms. Therefore, tremor and bradykinesia were compared in these disorders using quantitative tremorography.MethodsThe inertial sensor based Kinesia ™ system was used to quantify upper extremity tremor and bradykinesia in participants with FXTAS (n = 25), PD (n = 23), ET (n = 18) and controls (n = 20) and regression analysis was performed to determine whether tremorography measures distinguished between the groups. The FXTAS Rating scale (FXTAS-RS) was administered to determine whether sub-score items on the clinician rated scale correlated with tremorography variables.ResultsFXTAS participants had reduced finger tap speed compared to those with ET, and ET had increased kinetic tremor compared to PD. Higher kinetic tremor distinguished FXTAS from PD (p = .02), and lower finger tap speed distinguished FXTAS from ET (p = .004). FXTAS-RS tremor and bradykinesia items correlated with tremorography measures (p = .005 to <0.0001).ConclusionsThis is the first quantitative study to compare tremor and bradykinesia in FXTAS, PD and ET. Kinetic tremor and bradykinesia measures using a quantitative inertial sensor system distinguished FXTAS from PD and ET, respectively. Such technologies may be useful for detecting precise tremor and bradykinesia abnormalities and distinguishing the tremor and bradykinesia profiles in each of these disorders.

| S-EPMC8298795 | biostudies-literature

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