The role of movement analysis in diagnosing and monitoring neurodegenerative conditions: Insights from gait and postural control
Quantifying gait and postural control adds valuable information that aids in understanding
neurological conditions where motor symptoms predominate and cause considerable …
neurological conditions where motor symptoms predominate and cause considerable …
Spinocerebellar ataxia: relationship between phenotype and genotype–a review
YM Sun, C Lu, ZY Wu - Clinical genetics, 2016 - Wiley Online Library
Spinocerebellar ataxia (SCA) comprises a large group of heterogeneous neurodegenerative
disorders inherited in an autosomal dominant fashion. It is characterized by progressive …
disorders inherited in an autosomal dominant fashion. It is characterized by progressive …
Spinocerebellar ataxia 27B: A novel, frequent and potentially treatable ataxia
D Pellerin, MC Danzi, M Renaud… - Clinical and …, 2024 - Wiley Online Library
Hereditary ataxias, especially when presenting sporadically in adulthood, present a
particular diagnostic challenge owing to their great clinical and genetic heterogeneity …
particular diagnostic challenge owing to their great clinical and genetic heterogeneity …
Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6
Abstract Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disease that
manifests in midlife and progressively worsens with age. SCA6 is rare, and many patients …
manifests in midlife and progressively worsens with age. SCA6 is rare, and many patients …
Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment …
D Pellerin, F Heindl, C Wilke, MC Danzi, A Traschütz… - MedRxiv, 2023 - medrxiv.org
The cause of downbeat nystagmus (DBN) remains unknown in approximately 30% of
patients (idiopathic DBN). Here, we hypothesized that:(i) FGF14 (GAA)≥ 250 repeat …
patients (idiopathic DBN). Here, we hypothesized that:(i) FGF14 (GAA)≥ 250 repeat …
Quantitative assessment of cerebellar ataxia, through automated limb functional tests
Background Cerebellar damage can often result in disabilities affecting the peripheral
regions of the body. These include poor and inaccurate coordination, tremors and irregular …
regions of the body. These include poor and inaccurate coordination, tremors and irregular …
Essential tremor within the broader context of other forms of cerebellar degeneration
Essential tremor (ET) has recently been reconceptualized by many as a degenerative
disease of the cerebellum. Until now, though, there has been no attempt to frame it within the …
disease of the cerebellum. Until now, though, there has been no attempt to frame it within the …
Degeneration of ingestion‐related brainstem nuclei in spinocerebellar ataxia type 2, 3, 6 and 7
U Rüb, ER Brunt, E Petrasch‐Parwez… - Neuropathology and …, 2006 - Wiley Online Library
Dysphagia, which can lead to nutritional deficiencies, weight loss and dehydration,
represents a risk factor for aspiration pneumonia. Although clinical studies have reported the …
represents a risk factor for aspiration pneumonia. Although clinical studies have reported the …
Dysphagia affecting quality of life in cerebellar ataxia—A large survey
M Rönnefarth, N Hanisch, AU Brandt, A Mähler… - The Cerebellum, 2020 - Springer
Dysphagia is a common symptom in neurodegenerative disorders and is generally
associated with increased mortality. In the clinical care setting of ataxia patients, no …
associated with increased mortality. In the clinical care setting of ataxia patients, no …
The carboxy-terminal fragment of α1A calcium channel preferentially aggregates in the cytoplasm of human spinocerebellar ataxia type 6 Purkinje cells
T Ishiguro, K Ishikawa, M Takahashi, M Obayashi… - Acta …, 2010 - Springer
Abstract Spinocerebellar ataxia type 6 (SCA6) is an autosomal dominant neurodegenerative
disease caused by a small polyglutamine (polyQ) expansion (control: 4–20Q; SCA6: 20 …
disease caused by a small polyglutamine (polyQ) expansion (control: 4–20Q; SCA6: 20 …