The role of movement analysis in diagnosing and monitoring neurodegenerative conditions: Insights from gait and postural control

C Buckley, L Alcock, R McArdle, RZU Rehman… - Brain sciences, 2019 - mdpi.com
Quantifying gait and postural control adds valuable information that aids in understanding
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 …

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 …

Mitochondrial damage and impaired mitophagy contribute to disease progression in SCA6

TCS Leung, E Fields, N Rana, RYL Shen… - Acta …, 2024 - Springer
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 …

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 …

Quantitative assessment of cerebellar ataxia, through automated limb functional tests

R Krishna, PN Pathirana, M Horne, L Power… - … of neuroengineering and …, 2019 - Springer
Background Cerebellar damage can often result in disabilities affecting the peripheral
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

ED Louis, PL Faust - The Cerebellum, 2020 - Springer
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 …

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 …

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 …

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 …