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…Idiopathic acquired sporadic (non-wilsonian) Hepatocerebral degeneration
Objective: To describe case series of patients with acquired hepatocerbral degeneration of idioapthic cause Background: Acquired (non-wilsonian) Hepato cerebral degeneration (AHD) is a rare neurologic…Non-motor symptoms in ACDY5-associated disease
Objective: To describe non-motor symptoms in a case of ACDY5-associated disease. Background: The hereditary dyskinesia syndrome caused by an ACDY5 mutation was first described in…WILSON’S DISEASE: A Mongolian case
Objective: Objective: To determine the early clinical features that predict younger people who has Wilson’s disease(WD). Background: Backround: WD is fatal neurodegenerative disorder that is…A Pair of Brothers with Aceruloplasminemia Due to a Novel Nonsense Mutation: Unusual Phenotype and Neurological Improvement After Iron-Chelation Therapy with Deferasirox.
Objective: We describe the phenotype of a novel ceruloplasmin mutation and the neurological response to different iron-chelating therapies. Background: Aceruloplasminemia (AC) is a rare autosomal…Spg 11 gene mutation associated autosomal recessive hereditary spastic paraplegia presenting with partially levodopa responsive parkinsonism, stereotypy and cognitive decline.
Objective: To describe a rare case of SPG11 gene mutation associated complex hereditary spastic paraplegia with partially levodopa responsive parkinsonism Background: Hereditary Spastic Paraplegia (HSP)…Multiple myeloma induced parkinsonism
Objective: AHyper calcemia induced parkinsonism is one of the reversible parkinsonism with few reported cases. To our knowledge, Parkinsonism as a presenting feature of multiple…Familial Creutzfeldt-Jakob Disease with an E200K Mutation in Peru: A Case Report
Objective: To describe the clinical and molecular features of a familial Creutzfeldt-Jakob Disease (fCJD) case in Peru. Background: Creutzfeldt - Jakob disease (CJD) is characterized…Congenital mirror movements: When the left hand doesn’t know what the right is doing
Objective: To report on two non-related cases of congenital mirror movements (CMM). Background: Mirror movements (MM) are involuntary symmetrical movements of one side of the body that mirror intentional movements of the…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.