Background: Deep brain stimulation (DBS) has been utilized to treat various symptoms in patients suffering from movement disorders such as Parkinson's disease, dystonia, and essential tremor.
Genko Oyama +10 more
doaj +1 more source
Validity of a wearable accelerometer to quantify gait in spinocerebellar ataxia type 6 [PDF]
Biomarkers are required to track disease progression and measure the effectiveness of interventions for people with spinocerebellar ataxia type-6 (SCA6).
Alcock, Lisa +6 more
core +2 more sources
Nerve Ultrasound Detects Peripheral Nerve Enlargement in Cerebrotendinous Xanthomatosis
ABSTRACT Introduction/Aims Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by variants in the CYP27A1 gene, resulting in cholestanol accumulation in various tissues, including peripheral nerves. Polyneuropathy is common but often under‐recognized in CTX.
Antonio Edvan Camelo‐Filho +8 more
wiley +1 more source
Clinical-cognitive Characterization of Spinocerebellar Ataxia Type 2
Background: spinocerebellar ataxia type 2 is a genetic disease with an autosomal dominant inheritance pattern. It constitutes a health problem for Cuba, especially for the Holguín province, which concentrates the largest sick and at-risk population that ...
Alberto Caballero Laguna +2 more
doaj +2 more sources
Otoneurological Abnormalities in Patients with Friedreich's Ataxia
Introduction Friedreich's ataxia is a neurodegenerative disease and progressive by nature. It has autosomal recessive inheritance and early onset in most cases.
Bianca Simone Zeigelboim +6 more
doaj +1 more source
Paraneoplastic cerebellar degeneration associated with lymphoepithelial carcinoma of the tonsil [PDF]
Background: Paraneoplastic cerebellar degeneration (PCD) is a classical tumor-associated, immune-mediated disease typically associated with gynecological malignancies, small-cell lung-cancer or lymphoma.
Hartmann, Sylvia +5 more
core +1 more source
A Core Head, Neck, and Neuroanatomy Syllabus for Physical Therapy Student Education
ABSTRACT Head, neck, and neuroanatomy are essential components of physical therapy education due to their broad clinical applications. Detailed syllabi exist for medical students, yet none have been developed for physical therapy. This study aimed to produce an International Federation of Associations of Anatomists core head, neck, and neuroanatomy ...
Stephanie J. Woodley +4 more
wiley +1 more source
Deranged calcium signaling and neurodegeneration in spinocerebellar ataxia type 3 [PDF]
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is an autosomal-dominant neurodegenerative disorder caused by a polyglutamine expansion in ataxin-3 (SCA3, MJD1) protein.
Bezprozvanny, I +7 more
core +1 more source
Mutation in RNF170 Causes Unsteady Gait with Hypertrophic Olivary Degeneration
ABSTRACT Hypertrophic olivary degeneration (HOD) is a rare form of transsynaptic degeneration resulting from disruption of the Guillain–Mollaret triangle, typically presenting with palatal tremor, ataxia, and nystagmus. Mutations in the Ring Finger Protein 170 (RNF170) gene have been associated with autosomal dominant sensory ataxia.
Change Wang
wiley +1 more source
Spinocerebellar ataxia type 2 (SCA2): clinical features and genetic analysis. [PDF]
Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease that results from the expansion of an unstable trinucleotide CAG repeat encoding for a polyglutamine tract.
Bours, Vincent +5 more
core +1 more source

