Dentate Deep Brain Stimulation for Cerebellar Ataxia: Long Term Outcomes
Objective: To evaluate long-term results of Deep Brain Stimulation (DBS) targeting the dentate nucleus (DN) in patients with cerebellar ataxia Background: Cerebellar ataxia remains a…Ataxia, tremor, fasciculations and hemiparesis in a GBA1 heterozygous female carrier
Objective: Our aim is to present a woman carrying a heterozygous GBA1 mutation who developed exclusively neurological symptoms in adulthood. Background: The diagnosis of Gaucher…Substantia Nigra Degeneration In Spinocerebellar Ataxia 2 And 7 Using Neuromelanin-Sensitive Imaging
Objective: To assess substantia nigra pars compacta (SN) degeneration in SCA type 2 and 7 using neuromelanin-sensitive MRI Background: Spinocerebellar ataxias (SCA) are often associated…NGS diagnosis rate in a combined cerebellar ataxia and spastic paraplegia series from southern Spain
Objective: To evaluate the diagnosis rate of Next Generation Sequencing (NGS) in a combined series of patients with progressive cerebellar ataxia (CA) and progressive spastic…Two-year longitudinal evaluation of ataxia and brain structural changes in RFC1-related disorder
Objective: To describe the evolutionary pattern of brain structural changes in patients with RFC1-related disorder. Background: Specific brain structural changes have been described in patients…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…Physical activity in patients with atypical parkinsonian syndromes – Collection of real-world data
Objective: To record mobility in everyday life of patients with MSA, PSP and IPD using sensor-technology over several days. Background: Even in the early disease…Bilateral subthalamic nucleus deep brain stimulation as effective and sustained therapy in Juvenile Parkinson’s disease due to PTPA gene mutations
Objective: To report the efficacy of bilateral subthalamic nucleus (STN) Deep Brain Stimulation (DBS) in two siblings with Juvenile Parkinson’s Disease (JP) due to homozygous…Morphology and Functional Connectivity of the Basolateral Amygdala and Rapid Eye Movement Sleep Behavior Disorder
Objective: To determine the correlation of BLA morphology and functional connectivity (FC) with severity of RBD. Background: Idiopathic rapid eye movement sleep behavior disorder (iRBD)…If Oral Levodopa is not Possible, Keep Calm and Breathe Deeply
Objective: Include inhaled levodopa as a therapeutic option in those patients who, due to post-surgical problems, cannot use oral treatments. Background: The development of motor…
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