Cognitive and olfactory deficits in Machado–Joseph disease: A dopamine transporter study

Braga‐Neto, Pedro; Felı́cio, André Carvalho; Hoexter, Marcelo Q.; Pedroso, José Luiz; Dutra, Lívia Almeida; Alessi, Helena; Minett, Thaı́s; Santos-Galduróz, Ruth Ferreira; Rocha, Antônio José da; Bertolucci, Paulo Henrique Ferreira; Bressan, Rodrigo A.; Barsottini, Orlando Graziani Póvoas

doi:10.1016/j.parkreldis.2012.04.015

Cited by 24 publications

(13 citation statements)

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“…Previous studies have demonstrated that dopaminergic dysfunction of the basal ganglia is one of the potential mechanisms for central fatigue in PD patients (38,39). Similarly, abnormalities of the dopamine transporter were observed in SCA3 patients (40). Additionally, one study showed that there was widespread microstructural white matter damage in the thalamus, bilateral cerebral white matter, and the frontal and temporal lobes in SCA3 patients (24).…”

Section: Discussionmentioning

confidence: 97%

Ataxic Severity Is Positively Correlated With Fatigue in Spinocerebellar Ataxia Type 3 Patients

Yang

Chen

et al. 2020

Front. Neurol.

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Background: Spinocerebellar ataxia type 3 (SCA3) is an inherited form of ataxia that leads to progressive neurodegeneration. Fatigue is a common non-motor symptom in SCA3 and other neurodegenerative diseases, such as Parkinson's disease (PD) and amyotrophic lateral sclerosis (ALS). Although risk factors to fatigue in these diseases have been thoroughly studied, whether or not fatigue can affect clinical phenotypes has yet to be investigated. Methods: Ninety-one molecularly confirmed SCA3 patients and 85 age-and sex-matched controls were recruited for this study. The level of fatigue was measured using the 14-item Fatigue Scale (FS-14), and the risk factors to fatigue and how fatigue correlates with clinical phenotypes were studied using multivariable linear regression models. Results: We found that the severity was significantly higher in the SCA3 group than in the control group (9.30 ± 3.04% vs. 3.94 ± 2.66, P = 0.000). Daytime somnolence (β = 0.209, P = 0.002), severity of ataxia (β = 0.081, P = 0.006), and poor sleep quality (β = 0.187, P = 0.037) were found to have a positive relationship with fatigue. Although fatigue had no relationship with age at onset or ataxic progression, we found that it did have a positive relationship with the severity of ataxia (β = 7.009, P = 0.014). Conclusions: The high level of fatigue and the impact of fatigue on the clinical manifestation of SCA3 patients suggest that fatigue plays a large role in the pathogenesis of SCA3, thus demonstrating the need for intervention and treatment options in this patient cohort.

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Section: Discussionmentioning

confidence: 97%

Ataxic Severity Is Positively Correlated With Fatigue in Spinocerebellar Ataxia Type 3 Patients

Yang

Chen

et al. 2020

Front. Neurol.

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“…) . Metabolic abnormalities suggestive of axonal dysfunction in the deep white matter as well decreased binding for dopamine transporter in these regions and in the striatum also have been described …”

Section: Main Non‐motor Symptoms and Extra‐cerebellar Signs Already Dmentioning

confidence: 90%

“…A few studies have demonstrated that anxiety also is frequent in patients with MJD. The lack of data on the frequency of psychosis, personality disorders, and suicidal attempts raises the need for studies in this field …”

Section: Main Non‐motor Symptoms and Extra‐cerebellar Signs Already Dmentioning

confidence: 99%

Nonmotor and extracerebellar features in Machado‐Joseph disease: A review

et al. 2013

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Spinocerebellar ataxia type 3 or Machado-Joseph disease is the most common spinocerebellar ataxia worldwide, and the high frequency of nonmotor manifestations in Machado-Joseph disease demonstrates how variable is the clinical expression of this single genetic entity. Anatomical, physiological, clinical, and functional neuroimaging data reinforce the idea of a degenerative process involving extracerebellar regions of the nervous system in Machado-Joseph disease. Brain imaging and neuropathologic studies have revealed atrophy of the pons, basal ganglia, midbrain, medulla oblongata, multiple cranial nerve nuclei, and thalamus and of the frontal, parietal, temporal, occipital, and limbic lobes. This review provides relevant information about nonmotor manifestations and extracerebellar symptoms in Machado-Joseph disease. The main nonmotor manifestations of Machado-Joseph disease described in previous data and discussed in this article are: sleep disorders, cognitive and affective disturbances, psychiatric symptoms, olfactory dysfunction, peripheral neuropathy, pain, cramps, fatigue, nutritional problems, and dysautonomia. In addition, we conducted a brief discussion of noncerebellar motor manifestations, highlighting movement disorders. © 2013 Movement Disorder Society.

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“…Cognitive disturbances 18 [31] Executive dysfunction, visual information processing, and verbal and visual memory deficit [127] Affective disorders 18 --35 [51,128] Most commonly depressive and anxiety disorders [52,127] Olfactory dysfunction 20 [127] Reduced odor identification Chronic pain 50 [111] Musculoskeletal or related to dystonia or neuropathy Cramps 80 [109,110] Lower limbs, face and abdominal muscles Fatigue 70 [129] Severe fatigue was present in 69% patients with SCAs; patients with symptomatic nystagmus or diplopia were the most fatigued. Fatigue correlated with sleep disturbances.…”

Section: Cagexp Repeats On Atxn3mentioning

confidence: 99%