Muscle Ultrasound Comparison between Early, Intermediate and Late Onset Friedreich’s Ataxia
Objective: To elucidate discriminative muscle ultrasound features in Friedreich's ataxia (FA) between pediatric (p-FA), intermediate (i-FA) and very late onset (VLOFA) subgroups. Background: Friedreich’s Ataxia…Alignment of objective markers of speech with listener based judgements and disease severity in Friedreich ataxia
Objective: To identify a subset of acoustic markers of speech that objectively describe listener perceptions, disease severity and speech related quality of life in Friedreich…Research on the modifier gene of Hereditary spinocerebellar ataxia type 2
Objective: To investigate the influence of CAG trinucleotides repeat of some (CAG)n-containing gene and some gene polymorphisms in AO of SCA2, and analyse the difference…Inpatient vs outpatient workup of patients with ataxia and suspected paraneoplastic cerebellar degeneration: Does work-up location matter?
Objective: To assess the outcomes of patients with ataxia evaluated for paraneoplastic syndrome primarily in an outpatient or inpatient setting. Background: Although paraneoplastic ataxias are…The severity of motor dysfunctions and autonomic dysfunctions are not correlated in multiple system atrophy
Objective: Although it is well known that patients with multiple system atrophy (MSA) cerebellar dominant type (MSA-C) show severe autonomic dysfunction, the relationship between autonomic…Alcohol- Induced Cerebellar Ataxia
Objective: To verify vestibulocochlear disorders observed in a case of alcohol-induced cerebellar ataxia. Background: Alcohol-induced cerebellar degeneration is the commonest type of acquired toxic ataxia,…Another mitochondrial disease mimic: Two Case reports of adult riboflavin transporter deficiency (RTD) type 2 with muscle adenosine monophosphate (AMP) deaminase deficiency
Objective: To present two rare cases of RTD type 2 with co-existing AMP deaminase deficiency. Background: RTD, formerly known as Brown-Vialetto-Van Laere syndrome, is a…The First Chinese Case of Fragile X-associated Tremor/ Ataxia Syndrome :an underestimated disease in China
Objective: To report the first case of FXTAS from mainland of China and review the literature to find out why is FXTAS an underestimated disease in…Identification of modifier genes related to G proteins pathways on the motor capacity of a Drosophila melanogaster model of Friedreich’s ataxia
Objective: To identify genetic modifiers related to G-protein coupled receptor signaling pathways, which might improve a frataxin-depleted phenotype in a Drosophila model of Friedreich's ataxia.…Permanent chorea in 76-years-old female with poorly controlled diabetes
Objective: To present a unique case of a patient with hyperglycemic associated chorea showing no improvement during a long-term follow-up, despite a strict glycemic control.…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.