A Case of Generalized Chorea Presenting as an Early Feature of <scp>Fragile‐X</scp> Associated Tremor/Ataxia Syndrome

Islam, Fariha; Lee, Will

doi:10.1002/mdc3.12944

Cited by 6 publications

(4 citation statements)

References 10 publications

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“…generalized chorea), and myogenic lesion (e.g. inclusion body myositis), have been noted in some FXTAS patients [ 11 , 12 ]. However, paroxysmal symptoms that are frequently seen in NIID patients, including encephalitis-like attacks [ 13 , 14 ], stroke-like attacks [ 15 ], migraine-like attacks [ 16 ], and epileptic episodes [ 17 ], are rarely documented in FXTAS, except for a previous report about an Italian FXTAS female with stroke-like attacks of acute vomiting, dysarthria, dizziness, quadriparesis, and consciousness impairment [ 18 ].…”

Section: Discussionmentioning

confidence: 99%

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

Zhong,

Liu,

Lian

et al. 2024

BMC Neurol

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Background Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder caused by CGG repeat expansion of FMR1 gene. Both FXTAS and neuronal intranuclear inclusion disease (NIID) belong to polyglycine diseases and present similar clinical, radiological, and pathological features, making it difficult to distinguish these diseases. Reversible encephalitis-like attacks are often observed in NIID. It is unclear whether they are presented in FXTAS and can be used for differential diagnosis of NIID and FXTAS. Case presentation A 63-year-old Chinese male with late-onset gait disturbance, cognitive decline, and reversible attacks of fever, consciousness impairment, dizziness, vomiting, and urinary incontinence underwent neurological assessment and examinations, including laboratory tests, electroencephalogram test, imaging, skin biopsy, and genetic test. Brain MRI showed T2 hyperintensities in middle cerebellar peduncle and cerebrum, in addition to cerebellar atrophy and DWI hyperintensities along the corticomedullary junction. Lesions in the brainstem were observed. Skin biopsy showed p62-positive intranuclear inclusions. The possibilities of hypoglycemia, lactic acidosis, epileptic seizures, and cerebrovascular attacks were excluded. Genetic analysis revealed CGG repeat expansion in FMR1 gene, and the number of repeats was 111. The patient was finally diagnosed as FXTAS. He received supportive treatment as well as symptomatic treatment during hospitalization. His encephalitic symptoms were completely relieved within one week. Conclusions This is a detailed report of a case of FXTAS with reversible encephalitis-like episodes. This report provides new information for the possible and rare features of FXTAS, highlighting that encephalitis-like episodes are common in polyglycine diseases and unable to be used for differential diagnosis.

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Section: Discussionmentioning

confidence: 99%

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

Zhong,

Liu,

Lian

et al. 2024

BMC Neurol

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“…Según (Islam & Lee, 2020), una de las principales preocupaciones de los familiares de pacientes con SXF es el prolongado proceso de diagnóstico, lo que genera un aumento en el estrés, los hallazgos de este estudio que coinciden con la teoría y resaltan la angustia de los cuidadores familiares frente a este prolongado diagnóstico.…”

Section: Discussionunclassified

“…Además, las personas con la premutación del cromosoma X frágil pueden presentar dolor crónico, y las mujeres presentan más síntomas de dolor que los hombres, como alodinia, neuropatía periférica, migraña, fibromialgia y dolor de espalda (Norris et al, 2023)]. La presentación del síndrome puede variar considerablemente, y algunas personas que se encuentran dentro del rango de premutación presentan síntomas atípicos, como la corea generalizada, además de ataxia y deterioro cognitivo (Islam & Lee, 2020) Las principales preocupaciones a las que se enfrentan los familiares de pacientes con cromosoma X Frágil suelen tener que realizar un diagnóstico prolongado, lo que aumenta el estrés y repercute negativamente en la salud mental (Islam & Lee, 2020)los mismo autores plantean que tanto las madres como los padres necesitan un mayor apoyo para reducir sus problemas de salud mental y el estrés de la crianza de los hijos diagnosticados con la enfermedad. De otra parte, Los padres, especialmente las madres, se enfrentan a niveles elevados de ansiedad, depresión y estrés parental, lo por lo que es necesario servicios basados en la familia que aborden tanto las necesidades del paciente como el bienestar de los padres.…”

Section: Introductionunclassified

"Tras las Huellas del Síndrome de cromosoma X Frágil: Experiencias y Desafíos en Ricaurte, Valle del Cauca, un estudio cualitativo”

Andrade Díaz,

Marmolejo Sarmiento,

Veloza Montoya

2024

ReSoFro

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Este artículo investigó las percepciones de los cuidadores familiares y el personal asistencial de pacientes con Síndrome de Cromosoma X Frágil (SXF) en la localidad de Ricaurte, Valle del Cauca. Se utilizó un enfoque cualitativo inductivo, adoptando un enfoque hermenéutico (teoría fundamentada). Para comprender las necesidades y problemáticas experimentadas por los participantes, se llevaron a cabo grupos focales. La información recolectada se categorizó y codificó utilizando el software ATLAS.ti 23. Los hallazgos revelan la complejidad y los desafíos que enfrentan tanto el personal asistencial como los familiares de pacientes con SXF. Se destaca la necesidad de estrategias integrales que aborden las demandas físicas, emocionales, administrativas y económicas. Además, se subraya la importancia de proporcionar apoyo y recursos específicos para mejorar la calidad de vida tanto de los pacientes como de sus cuidadores.

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“…FXTAS is so diverse that it may present with a variety of features beyond the tremor and ataxia including parkinsonism, executive function deficits, memory loss, cognitive deficits with eventual dementia, brain atrophy, white matter disease characterized by hyperintensities on MRI involving the middle cerebellar peduncles (MCP sign), the splenium and periventricular areas. In addition, motor and autonomic dysfunction, neuropsychiatric symptoms like anxiety, irritability, apathy and depression and peripheral neuropathy are common in those with FXTAS [ 69 , 76 , 77 , 78 , 79 , 80 , 81 , 82 , 83 , 84 , 85 ].…”

Section: Epidemiology Of Fxs In Africamentioning

confidence: 99%

A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa

Mbachu,

Hagerman

2024

Genes

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Fragile X syndrome (FXS) is a genetic disorder caused by a mutation in the fragile X messenger ribonucleoprotein 1 (FMR1) gene and known to be a leading cause of inherited intellectual disability globally. It results in a range of intellectual, developmental, and behavioral problems. Fragile X premutation-associated conditions (FXPAC), caused by a smaller CGG expansion (55 to 200 CGG repeats) in the FMR1 gene, are linked to other conditions that increase morbidity and mortality for affected persons. Limited research has been conducted on the burden, characteristics, diagnosis, and management of these conditions in Africa. This comprehensive review provides an overview of the current literature on FXS and FXPAC in Africa. The issues addressed include epidemiology, clinical features, discrimination against affected persons, limited awareness and research, and poor access to resources, including genetic services and treatment programs. This paper provides an in-depth analysis of the existing worldwide data for the diagnosis and treatment of fragile X disorders. This review will improve the understanding of FXS and FXPAC in Africa by incorporating existing knowledge, identifying research gaps, and potential topics for future research to enhance the well-being of individuals and families affected by FXS and FXPAC.

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A Case of Generalized Chorea Presenting as an Early Feature of Fragile‐X Associated Tremor/Ataxia Syndrome

Abstract: View Supplementary Video 1

Cited by 6 publications

References 10 publications

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

Reversible encephalitis-like episodes in fragile X-associated tremor/ataxia syndrome: a case report

"Tras las Huellas del Síndrome de cromosoma X Frágil: Experiencias y Desafíos en Ricaurte, Valle del Cauca, un estudio cualitativo”

A Comprehensive Review of Fragile X Syndrome and Fragile X Premutation Associated Conditions in Africa

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