Matches in SemOpenAlex for { <https://semopenalex.org/work/W4367304209> ?p ?o ?g. }
Showing items 1 to 74 of
74
with 100 items per page.
- W4367304209 abstract "<h3>Objective:</h3> To emphasize the variability of clinical presentations of genetic movement disorders as depicted by a family with SCA21. <h3>Background:</h3> Spinocerebellar ataxia type 21 (SCA21) is a rare autosomal dominant condition that can have a variety of motor, cognitive, or behavioral manifestations. This clinical variability is seen both between and within families with the same mutation. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> A 51-year-old woman presented to clinic for evaluation of lifelong worsening balance impairment and hand clumsiness. Her physical exam noted marked ataxia and dysmetria in the extremities, ataxic gait, and spastic extremities, and neuropsychiatric testing was remarkable for mild impairments. Following further workup, a family history of neurologic complaints was taken, which revealed that one of her three children had tremors. When brought to clinic, the patient’s daughter revealed a lifelong history of bilateral hand tremors with worsening over the previous two years. She further noted a slowness in her thinking that required special education courses, as well as other mild motor difficulties. Given the potential for a genetic condition, an ataxia panel was ordered, which revealed a c.509C>Tp.P170L mutation in the TMEM240 gene in the patient and her daughter. <h3>Conclusions:</h3> This case emphasizes the importance of recognizing intrafamilial clinical heterogeneity in the diagnosis of genetic movement disorders. It highlights the potential benefits of an investigation into a family history notable for neurological disorders, which may provide the opportunity for appropriate testing and diagnosis. The variable presentations of spinocerebellar ataxias within families have been explored in a limited number of case reports. The identification of a possible unknown factor driving these differences in presentation could have potential therapeutic implications. While all reported cases of SCA21 have some degree of gait and limb ataxia, only one case has reported tremor onset followed by ataxia and dystonia, as seen in this case. <b>Disclosure:</b> Emma *Use 368242 Wetmore has nothing to disclose. Dr. Decker has nothing to disclose. Maysen Mesaros has nothing to disclose. An immediate family member of Dr. Rodriguez-Porcel has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Anmeal. Dr. Rodriguez-Porcel has received publishing royalties from a publication relating to health care." @default.
- W4367304209 created "2023-04-29" @default.
- W4367304209 creator A5063054008 @default.
- W4367304209 creator A5068516678 @default.
- W4367304209 creator A5087627794 @default.
- W4367304209 creator A5089896753 @default.
- W4367304209 date "2023-04-25" @default.
- W4367304209 modified "2023-09-25" @default.
- W4367304209 title "Intrafamilial Heterogeneity in Spinocerebellar Ataxia Type 21 (P8-11.015)" @default.
- W4367304209 doi "https://doi.org/10.1212/wnl.0000000000202088" @default.
- W4367304209 hasPublicationYear "2023" @default.
- W4367304209 type Work @default.
- W4367304209 citedByCount "0" @default.
- W4367304209 crossrefType "proceedings-article" @default.
- W4367304209 hasAuthorship W4367304209A5063054008 @default.
- W4367304209 hasAuthorship W4367304209A5068516678 @default.
- W4367304209 hasAuthorship W4367304209A5087627794 @default.
- W4367304209 hasAuthorship W4367304209A5089896753 @default.
- W4367304209 hasConcept C104317684 @default.
- W4367304209 hasConcept C118552586 @default.
- W4367304209 hasConcept C126322002 @default.
- W4367304209 hasConcept C127716648 @default.
- W4367304209 hasConcept C15744967 @default.
- W4367304209 hasConcept C187212893 @default.
- W4367304209 hasConcept C2777154897 @default.
- W4367304209 hasConcept C2778261627 @default.
- W4367304209 hasConcept C2779033419 @default.
- W4367304209 hasConcept C2779134260 @default.
- W4367304209 hasConcept C2779500118 @default.
- W4367304209 hasConcept C2780673598 @default.
- W4367304209 hasConcept C2780906641 @default.
- W4367304209 hasConcept C54355233 @default.
- W4367304209 hasConcept C548259974 @default.
- W4367304209 hasConcept C64618202 @default.
- W4367304209 hasConcept C71924100 @default.
- W4367304209 hasConcept C78458016 @default.
- W4367304209 hasConcept C86803240 @default.
- W4367304209 hasConcept C99508421 @default.
- W4367304209 hasConceptScore W4367304209C104317684 @default.
- W4367304209 hasConceptScore W4367304209C118552586 @default.
- W4367304209 hasConceptScore W4367304209C126322002 @default.
- W4367304209 hasConceptScore W4367304209C127716648 @default.
- W4367304209 hasConceptScore W4367304209C15744967 @default.
- W4367304209 hasConceptScore W4367304209C187212893 @default.
- W4367304209 hasConceptScore W4367304209C2777154897 @default.
- W4367304209 hasConceptScore W4367304209C2778261627 @default.
- W4367304209 hasConceptScore W4367304209C2779033419 @default.
- W4367304209 hasConceptScore W4367304209C2779134260 @default.
- W4367304209 hasConceptScore W4367304209C2779500118 @default.
- W4367304209 hasConceptScore W4367304209C2780673598 @default.
- W4367304209 hasConceptScore W4367304209C2780906641 @default.
- W4367304209 hasConceptScore W4367304209C54355233 @default.
- W4367304209 hasConceptScore W4367304209C548259974 @default.
- W4367304209 hasConceptScore W4367304209C64618202 @default.
- W4367304209 hasConceptScore W4367304209C71924100 @default.
- W4367304209 hasConceptScore W4367304209C78458016 @default.
- W4367304209 hasConceptScore W4367304209C86803240 @default.
- W4367304209 hasConceptScore W4367304209C99508421 @default.
- W4367304209 hasLocation W43673042091 @default.
- W4367304209 hasOpenAccess W4367304209 @default.
- W4367304209 hasPrimaryLocation W43673042091 @default.
- W4367304209 hasRelatedWork W170228069 @default.
- W4367304209 hasRelatedWork W1794786065 @default.
- W4367304209 hasRelatedWork W2010170814 @default.
- W4367304209 hasRelatedWork W2061485790 @default.
- W4367304209 hasRelatedWork W2074580339 @default.
- W4367304209 hasRelatedWork W2133919360 @default.
- W4367304209 hasRelatedWork W2386702925 @default.
- W4367304209 hasRelatedWork W2412391689 @default.
- W4367304209 hasRelatedWork W2885797410 @default.
- W4367304209 hasRelatedWork W3080503113 @default.
- W4367304209 isParatext "false" @default.
- W4367304209 isRetracted "false" @default.
- W4367304209 workType "article" @default.