Novel Partial Gene Deletion in CaCNA1A Presenting with Gait Ataxia, Vertigo, and Abnormal Eye Movements
Objective: To report a partial gene deletion in CaCNA1A associated with ataxia. Background: CaCNA1A gene, located on chromosome 19p, encodes the alpha-1a subunit of the…Volatile solvent abuse and Cerebellar ataxia: A case series
Objective: Delineation of clinical and radiological features of cerebellar ataxia from volatile solvent abuse. Background: Volatile solvents like glues, correction fluid, acrylic paints, varnishes, lacquers…Increased Risk of Suicidal Ideation in Patients with Spinocerebellar Ataxias
Objective: We aimed to investigate if individuals with spinocerebellar ataxias (SCAs) experience increased suicidal ideation and to identify associated factors. Background: Suicidality has been extensively…Friedreich’s ataxia: A descriptive study of a Tunisian cohort
Objective: we aim to describe the clinical, radiological and electrophysiological features of Friedreich's ataxia (FA) in our population. Background: FA is the most common autosomal…Phenotypic spectrum and natural history of POLR3A-associated spastic ataxia
Objective: To foster trial-readiness, we delineate the full phenotypic spectrum and provide piloting longitudinal natural progression data of POLR3A-associated spastic ataxia in a large international cohort.…Syndrome of Progressive Ataxia with Palatal Tremors (PAPT) with Hypertrophied Bilateral Inferior Olives in a young Indian Female
Objective: To report and extend the clinical and radiological features of Progressive Ataxia and Palatal Tremors (PAPT) syndrome. Background: Hypertrophic degeneration of olivary nucleus is…Association of expanded CAG repeat with autonomic function in Spinocerebellar Ataxia Type-2 (SCA-2)
Objective: To investigate association of expanded CAG repeat with autonomic function in SCA2 patients. Background: SCA2 is a progressive neurodegenerative disorder characterized by gait, limb…The Profile of Cerebellar Ataxia in Neurology Patients at National Tertiary Referral Hospital in Indonesia
Objective: This study aimed to portray the profile of Cerebellar Ataxia Background: Cerebellar ataxia refers to incoordination due to dysfunction of the cerebellum. It can…Autosomal recessive spastic ataxia of Charlevoix–Saguenay: Case report with 3 family members affected.
Objective: Report a case of ARSACS in a patient with 2 siblings also affected Background: Autosomal recessive spastic ataxia of Charlevoix–Saguenay (ARSACS) is a rare…Neuropsychiatric Manifestations in Patients with Degenerative Cerebellar Ataxias from Serbia
Objective: This study aimed to evaluate the various cognitive and psychiatric manifestations in patients with DCA. Background: Degenerative cerebellar ataxias (DCA) are diseases with complex…
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