Movement Disorders Flashcards
What are clinical features of Lesch/Nyhan disease
Normal the first few months of life followed by obvious delays and motor development between 3 to 6 months of age. The second year of life is notable for the appearance of involuntary movements of the limbs and face and progressive alterations in tone(axial hypotonia and limb spasticity) oral automutilation develops between the ages of 2 to 4 years
What is the best treatment for movement disorder associated with Kayser-Fleischer rings
This is consistent wit Wilsons Disease. Treatments include zinc, copper chelators such as penicillamine and trientine
What causes Lesch-Nyhan disease
X linked disorder of purine metabolism leads to an overproduction of uric acid .
Elevated levels of uric acid are noted in both Urine and Serum and are very helpful and screening for the disease.
Treatment with allopurinol may prevent the Renal complications
What is the genetic defect and Huntington’s disease
An expanded CAG repeat in the Huntington gene which encodes an abnormally long poly glutamine repeat in the Huntington protein
What clinical features are associated with MSA
Hyperreflexia with babinski sign and stridor dementia is not expected to be present
Progressive supranuclear palsy is most likely to show atrophy in which part of the brain
Midbrain
In what movement disorder do you see anti-nMDA receptor antibodies
Paraneoplastic lambic encephalitis associated with an ovarian teratoma
What are the clinical presentation and MRI findings in pantothenate kinase-associated neurodegenetation
Dystonia dysarthria and rigidity
MRI shows eye of the tiger due to brain iron accumulation and is the result of a mutation in the PANK2 gene
What is seen in mutations of ATP1A3 gene
Rapid onset dystonia -Parkinsonism
What medications are important as secondary causes of tremor in patients
Beta agonist, valproic acid, tricyclic antidepressants, lithium, thyroxine, nicotine, caffeine, cocaine and amphetamines
What is the best treatment for post anoxic myoclonus also known as Lance – Adams syndrome
Keppra, valproic acid and clonazepam
What gene mutations are associated with Parkinson’s disease
LRRK2 mutations are responsible for up to 5 to 10% of the Familial Parkinson’s disease. Inheritance is AutoSomal dominate with reduced penetrance
PINK1 mutations are inherited in an Autosomal recessive fashion and are responsible for 10%of early onset forms
Mutations in the parkin gene are responsible for nearly 50% of early onset familial PD
Mutations of alpha/synuclein gene (SNCA) cause what symptoms
Associated with 2% of autosomal-dominant forms of PD, with a mildly earlier age of onset, more early cognitive and diffuse cortical involvement in a poor response to dopamine agonist treatment
What do mutations in TOR1A cause
DYT1 dystonia also known as idiopathic torsion dystonia
What do mutations in ATP1A3 cause
Rapid onset dystonia-parkinsonism
