Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10

Moro, Adriana; Munhoz, Renato P.; Moscovich, Mariana; Arruda, Walter O.; Raskin, Salmo; Silveira‐Moriyama, Laura; Ashizawa, Tetsuo; Teive, Hélio A. Ghizoni

doi:10.1007/s12311-017-0869-2

Cited by 24 publications

(39 citation statements)

References 29 publications

(37 reference statements)

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“…ID was associated to SCA 13 (due to KCNC3 defect) [55,56] and, according to the present review, to KCND3 defect (early-onset presentation).…”

Section: Discussionsupporting

confidence: 55%

“…Cognitive decline and ID are non-motor symptoms described in several types of SCAs [ 55 , 56 ]. A recent work attempted to predict type and severity of cognitive issues in the expanded-polyglutamine tracts SCAs according to the underlying genetic diagnosis (i.e., SCA type 1, 2, 3, 6, 7, 8, and 17 and dentato pallidoluysian atrophy) [ 57 ].…”

Section: Discussionmentioning

confidence: 99%

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KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

Pollini

Galosi

Tolve

et al. 2020

IJMS

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KCND3 encodes the voltage-gated potassium ion channel subfamily D member 3, a six trans-membrane protein (Kv4.3), involved in the transient outward K+ current. KCND3 defect causes both cardiological and neurological syndromes. From a neurological perspective, Kv4.3 defect has been associated to SCA type 19/22, a complex neurological disorder encompassing a wide spectrum of clinical features beside ataxia. To better define the phenotypic spectrum and course of KCND3-related neurological disorder, we review the clinical presentation and evolution in 68 reported cases. We delineated two main clinical phenotypes according to the age of onset. Neurodevelopmental disorder with epilepsy and/or movement disorders with ataxia later in the disease course characterized the early onset forms, while a prominent ataxic syndrome with possible cognitive decline, movement disorders, and peripheral neuropathy were observed in the late onset forms. Furthermore, we described a 37-year-old patient with a de novo KCND3 variant [c.901T>C (p.Ser301Pro)], previously reported in dbSNP as rs79821338, and a clinical phenotype paradigmatic of the early onset forms with neurodevelopmental disorder, epilepsy, parkinsonism-dystonia, and ataxia in adulthood, further expanding the clinical spectrum of this condition.

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“…ID was associated to SCA 13 (due to KCNC3 defect) [55,56] and, according to the present review, to KCND3 defect (early-onset presentation).…”

Section: Discussionsupporting

confidence: 55%

Section: Discussionmentioning

confidence: 99%

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

Pollini

Galosi

Tolve

et al. 2020

IJMS

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“…In SCA3, many types of sleep disturbances have been reported, including periodic limb movements during sleep (PLMS), RBD, RLS, EDS, and obstructive sleep apnea (OSA) 12 . PLMS and RLS account for 20%‐45% in SCA3 in various studies 13 . However, the risk factors for these sleep disturbances in SCA3 are not yet known.…”

Section: Discussionmentioning

confidence: 99%

“…In treatment strategies, all treatable factors for fatigue should be addressed, especially depression, visual symptoms, and sleeping disorders 17 . Fatigue is more commonly observed in SCA3 followed by SCA6 and SCA10 13,18 …”

Section: Discussionmentioning

confidence: 99%

Non‐motor symptoms in patients with autosomal dominant spinocerebellar ataxia

et al. 2020

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Objective The non‐motor manifestations of motor predominant disorders have been an area of active interest in recent times. The objective of the study was to determine the prevalence of non‐motor symptoms in patients with genetically confirmed spinocerebellar ataxia (SCA). Materials and Methods Forty‐one patients of SCA and 48 age‐, gender‐, and education‐matched controls were included. The severity of ataxia was evaluated using the International Cooperative Ataxia Rating Scale (ICARS) and cognitive impairment using a neuropsychological battery. Non‐motor features were assessed using standardized scales (HAM‐A, HAM‐D, Modified Fatigue Severity Scale, RLS questionnaire, ESS, PSQI, WHOQOL, RBDSQ, and BPI). The data were compared with controls and correlated with the severity of ataxia. Results There were 17 SCA1, 14 SCA2, and 10 SCA3 patients. The mean age of presentation was 35.7 ± 7.9 years for SCA1, 31.1 ± 7.9 years for SCA2, and 30.5 ± 9.5 years for SCA3 patients. The neuropsychological evaluation showed severe impairment of attention, executive functions, visuospatial function, motor speed, response speed, and memory. The severity of ataxia was more for SCA2 patients (ICARS of 39.5 ± 24.4). Ataxia severity was correlated with MMSE, fatigue scale, depression scale, and REM sleep behavior disorder in SCA1 individuals and global cognition, fatigue, anxiety, and depression scales, and RLS in SCA3 patients. All patients reported quality of life as dissatisfied. These patients also had sleep disturbances in the form of RBD, RLS, and EDS. Conclusions In addition to the motor symptoms, patients with SCA have several non‐motor symptoms that impair the quality of life.

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“…As a common symptom, fatigue was found to have great impact on the quality of life in PD (13)(14)(15)(16). Fatigue is also a pronounced non-motor symptom in SCAs (17)(18)(19), especially in SCA3 patients, with a high prevalence around 52.9-63.5% (3,20,21). The significant predictors of fatigue, such as length of expanded CAG repeats, excessive daytime somnolence, and mood disorders such as anxiety and major depression have been explored (3,19,20,22,23).…”

Section: Introductionmentioning

confidence: 99%

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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Nonmotor Symptoms in Patients with Spinocerebellar Ataxia Type 10

Cited by 24 publications

References 29 publications

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

KCND3-Related Neurological Disorders: From Old to Emerging Clinical Phenotypes

Non‐motor symptoms in patients with autosomal dominant spinocerebellar ataxia

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

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