Perrault syndrome: CLPP-Knock-Out mouse brain shows accumulation of mitoribosomes
Objective: We aimed to document the alterations of pathways and molecules that underlie brain pathology in the Perrault syndrome. Background: Perrault syndrome is an autosomal…Atypical and slowly progressive FTDP-17 caused by MAPT p.R406W mutations – similarities to AD and PSP.
Objective: We compiled clinical data of a new kindred with the MAPT c.1216C>T (p.Arg406Trp; R406W) mutation and systematically reviewed previously described cases with this mutation.…FXTAS, PD, and ET subjects demonstrate distinct gait, balance and tremor deficits under normal, environmentally challenging, and dual-task conditions
Objective: To compare FXTAS, PD, ET and controls using quantitative measures of gait, balance, and tremor. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative disease…Assessments of Movement Disorder Symptoms and Functional Impacts in Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS)
Objective: To identify Clinical Outcome Assessments (COAs) appropriate for the evaluation of paroxysmal movement disorder symptoms and functional impact in Glut1 DS. Background: Glut1 DS…Treatable Rare Movement Disorders
Objective: To classify therapies of RMD into enzyme replacement therapy, specific dietary changes, avoidance or management of certain triggers, and others Background: Rare diseases (RD)…Cerebrotendinous xanthomatosis without tendon xanthoma: a diagnostic challenge.
Objective: To describe the case of Cerebrotendinous xanthomatosis (CTX) without tendon xanthoma, highlighting the diagnostic challenge due to its rarity, as well as the importance…Disappearance of the clinical and imaging manifestations in Wilson’s disease after controlled therapy with tetrathiomolybdate and zinc
Objective: To present a case with Wilson’s disease (WD) whose neurological and imaging alterations disappeared after ammonium tetrathiomolybdate (AT) and zinc acetate (Zn) controlled therapy. …Deferiprone combined with phlebotomy for aceruloplasminemia
Objective: To evaluate the efficacy and safety of chelation therapy with deferiprone combined with phlebotomy in reducing iron stores and neurological progression in aceruloplasminemia. Background:…An unusual presentation of tyrosine hydroxylase deficiency
Objective: To discuss a case of tyrosine hydroxylase deficiency presenting with resolution of symptoms on levodopa except for a dynamic segmental dystonia Background: Dopa-responsive dystonia…Phenotype of PLP1-related disorder caused by novel mutation: a case report
Objective: To illustrate phenotype of PLP1-related disorder caused by a novel mutation. Background: Phenotypes of X-linked PLP1-related disorders vary from severe forms of hypomyelinating leukodystrophy-Pelizaeus–Merzbacher…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.