Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

Gan, Shi Rui; Wang, Jie; Figueroa, Karla P.; Pulst, Stefan M.; Tomishon, Darya; Lee, Danielle; Perlman, Susan; Wilmot, George; Gómez, Christopher M.; Schmahmann, Jeremy D.; Paulson, Henry L.; Shakkottai, Vikram G.; Ying, Sarah H.; Zesiewicz, Theresa; Bushara, Khalaf; Geschwind, Michael D.; Xia, Guangbin; Subramony, S. H.; Ashizawa, Tetsuo; Kuo, Sheng Han

doi:10.7916/d8gm8krh

Cited by 13 publications

(2 citation statements)

References 56 publications

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“…Action tremor is also part of the motor phenomenology of cerebellar dysfunction and it has been therefore associated with several spinocerebellar ataxias (SCAs). In a recent study which included 315 patients with the commonest forms of SCAs (i.e., SCA1, 2, 3 and 6), intention tremor was found in the majority of patients (ranging from 78.9% in SCA1 patients to 97.2% in SCA2 patients), whereas postural tremor was less frequently observed, its higher figure (about 27%) being reported in SCA2 cases [133]. It should be noted, however, that gait disturbance is the predominant feature of these (and many other) SCAs and therefore the differential diagnosis in these patients is generally tailored according to ataxia rather than to tremor.…”

Section: Fxtas and Other Genetic Causes Of Tremormentioning

confidence: 96%

Rare tremors and tremors occurring in other neurological disorders

Erro

Reich

2022

Journal of the Neurological Sciences

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Section: Fxtas and Other Genetic Causes Of Tremormentioning

confidence: 96%

Rare tremors and tremors occurring in other neurological disorders

Erro

Reich

2022

Journal of the Neurological Sciences

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“…Genetic testing can be considered only in combined tremor syndrome with parkinsonism, dystonia, ataxia, neuropathy, cognitive impairment, psychiatric symptoms, and a positive family history of movement disorders [ 10 ]. Patients manifesting with bilateral action tremor with ataxia would point to fragile X-associated tremor and ataxia syndrome (FXTAS) or SCA particularly type 12 [ 100 , 101 , 102 , 103 ]. In familial cases with dystonia and tremor with or without neuropsychiatric problems, DYT24 (Anoctamin-3 (ANO3) mutation), DYT3 (Lubag’s disease), and Wilson’s disease should be considered [ 104 ].…”

Section: Step 3: Are Ancillary Tests Indicated?mentioning

confidence: 99%

Bedside clinical assessment of patients with common upper limb tremor and algorithmic approach

Panyakaew,

Phuenpathom,

Bhidayasiri

et al. 2024

Asian Biomedicine

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The diagnostic approach for patients with tremor is challenging due to the complex and overlapping phenotypes among tremor syndromes. The first step in the evaluation of tremor is to identify the tremulous movement and exclude the tremor mimics. The second step is to classify the tremor syndrome based on the characteristics of tremor from historical clues and focused examination (Axis 1). Comprehensive tremor examinations involve the assessment of tremor in different conditions (rest, action or mixed, position or task-specific), distribution of tremor (upper limb, lower limb, head, jaw), positive signs for functional tremor (FT) if suspected (distractibility, entrainment, co-contraction), and associated neurological signs including parkinsonism, dystonic posture, cerebellar/brainstem signs, neuropathy, and cognitive impairment. A pivotal feature in this step is to determine any distinct feature of a specific isolated or combined tremor syndrome. In this review, we propose an algorithm to assess upper limb tremors. Ancillary testing should be performed if clinical evaluation is unclear. The choice of investigation depends on the types of tremors considered to narrow down the spectrum of etiology (Axis 2). Laboratory blood tests are considered for acute onset and acute worsening of tremors, while structural neuroimaging is indicated in unilateral tremors with acute onset, nonclassical presentations, and a combination of neurological symptoms. Neurophysiological study is an important tool that aids in distinguishing between tremor and myoclonus, etiology of tremor and document specific signs of FT. Treatment is mainly symptomatic based depending on the etiology of the tremor and the patient’s disabilities.

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Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

Sobering

Beighley

et al. 2020

American J of Med Genetics Pt C

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We describe our experiences with organizing pro bono medical genetics and neurology outreach programs on several different resource‐limited islands in the West Indies. Due to geographic isolation, small population sizes, and socioeconomic disparities, most Caribbean islands lack medical services for managing, diagnosing, and counseling individuals with genetic disorders. From 2015 to 2019, we organized 2–3 clinics per year on various islands in the Caribbean. We also organized a week‐long clinic to provide evaluations for children suspected of having autism spectrum disorder. Consultations for over 100 different individuals with suspected genetic disorders were performed in clinics or during home visits following referral by locally registered physicians. When possible, follow‐up visits were attempted. When available and appropriate, clinical samples were shipped to collaborating laboratories for molecular analysis. Laboratory tests included karyotyping, cytogenomic microarray analysis, exome sequencing, triplet repeat expansion testing, blood amino acid level determination, biochemical assaying, and metabolomic profiling. We believe that significant contributions to healthcare by genetics professionals can be made even if availability is limited. Visiting geneticists may help by providing continuing medical education seminars. Clinical teaching rounds help to inform local physicians regarding the management of genetic disorders with the aim of generating awareness of genetic conditions. Even when only periodically available, a visiting geneticist may benefit affected individuals, their families, their local physicians, and the community at large.

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Postural Tremor and Ataxia Progression in Spinocerebellar Ataxias

Cited by 13 publications

References 56 publications

Rare tremors and tremors occurring in other neurological disorders

Rare tremors and tremors occurring in other neurological disorders

Bedside clinical assessment of patients with common upper limb tremor and algorithmic approach

Experiences with offering pro bono medical genetics services in the West Indies: Benefits to patients, physicians, and the community

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