Substantial motor and non-motor symptoms in children and adults with classical galactosemia and organic acidurias
Objective: To investigate the prevalence of movement disorders (MDs), their impact on quality of life (QoL) and accompanying non-motor symptoms in patients with classical galactosemia…L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency
Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…Same cerebellar atrophy pattern in hyper- and hypokinetic movement disorders due to mitochondrial cytopathy
Objective: To describe the prevalence and phenotype of movement disorders (MDs) in patients with mitochondrial cytopathy (MC) and corresponding pattern of cerebral atrophy. Background: MCs…Bristle hair may point to hereditary spastic paraplegia type SPG35/ FAHN
Objective: Finding new phenotypic features or biomarkers in hereditary spastic paraplegia type SPG35 / Fatty Acid Hydroxylase-associated Neurodegeneration (FAHN) to help clinicians to identify this…Levodopa-responsive hereditary spastic paraplegia, SPG35, due to FA2H mutations in siblings
Objective: To describe FA2H mutations, one novel, in siblings with SPG35 with symptoms responsive to levodopa. Background: Hereditary spastic paraplegia (HSP) is a phenotypically and…Deficiency of HGprt in Lesch-Nyhan disease is associated with abnormal dopaminergic neurodevelopment in vivo
Objective: To determine the in vivo effects of hypoxanthine-guanine phosphoribosyl transferase (HGprt) deficiency on dopaminergic neurodevelopment in a genetic mouse model of Lesch-Nyhan disease (LND).…A heterozygous splicing variant in NPC2 in a patient with PSP
Objective: Clinical, neuroimaging, genetic and biochemical characterization of a patient with a PSP-like phenotype carrying a splicing mutation in NPC2. Background: Niemann-Pick type C disease…Neurodegeneration with brain iron accumulation (NBIA): Two cases with different subtypes and a rare mutation
Objective: We present two cases with clinical, radiological and genetical (a very rare mutation) findings of neurodegeneration with brain iron accumulation (NBIA). Results: Case 1.…Two siblings with action myoclonus renal failure syndrome
Objective: To describe two cases of the rare action myoclonus renal failure syndrome. Background: Action Myoclonus Renal Failure syndrome (AMRF) is characterized by neurological symptoms…Novel PLA2G6 c.1627C>T homozygous mutation and response to DBS-GPi
Objective: We present a novel homozygous PLA2G6 mutation and response to Deep Brain Stimulation (DBS). Background: Neurodegeneration with brain iron accumulation (NBIA) type 2/PLA2G6 is…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.