Basal Ganglia: PATHOLOGIES Emma & Amrit

PARKINSON’S HUNTONGTON’S BALISMUS/HEMIBALISMUS ATHETOSIS WILSON’S DISEASE

A patient arrives in clinic. The move very slowly and when they come into your room they look as though they are shuffling their feet and their arms seem to swing less than normal. “Dr, I am getting progressively stiff, am finding it difficult to walk down the stairs. At first I was ignoring it but it is only getting worse.” Given this scenario what is the likely diagnosis? Parkinson’s Disease What is the name given to the gait described above? Festinant gait Trendeleburg gait The Pigeon Skank High-stepping gait

A patient arrives in clinic. The move very slowly and when they come into your room they look as though they are shuffling their feet and their arms seem to swing less than normal. “Dr, I am getting progressively stiff, am finding it difficult to walk down the stairs. At first I was ignoring it but it is only getting worse.” Given this scenario what is the likely diagnosis? Parkinson’s Disease What is the name given to the gait described above? Festinant gait Trendeleburg gait The Pigeon Skank High-stepping gait

Name the 4 Core/Cardinal features of Parkinson’s. TRAP Tremor Rigidity (Cog-wheel or Lead Pipe) Akinesia Postural Instability Name and explain any additional signs of Parkinson’s. Micrographia Mask-like face (Expresionless face) Festinant gait Sleep disturbances Aprosodia

What are the three types of Parkinson’s disease, and for each give a cause? Pure Parkinsonism Idiopathic – Parkinson’s disease Iatrogenic Post-encephalitic Parkinsonism with extras Multiple systems atrophy (3-types: MSA-A, -P, -C) Progressive supranuclear palsy Pseudoparkinsonism Wilson’s disease Benign Essential Tremor Trauma and vascular-related

When assessing the patient you notice that they have a tremor. A Parkinson’s tremor is: a) A resting tremor b) An essential tremor c) Only seen when sleeping

When assessing the patient you notice that they have a tremor. A Parkinson’s tremor is: a) A resting tremor b) An essential tremor c) Only seen when sleeping You treat the patient and two years later he returns and is complains of ‘on- off’ effects. What drug would you have prescribed that would have led to this side effect? Levodopa Name some other side effects of this drug. Anorexia, drowsiness, Hypomania, Psychosis, Sudden onset sleep, Hypotension, Tachycardia, Arrythmias

Your next patient is a 48 year old male by the name of Mike Litoris. His partner states that his memory is getting worse and that he is unable to concentrate. Mr Litoris agrees and says for the past year he has developed involuntary movements of his fingers and toes. What disease may you suspect in this patient? Huntington’s Chorea

Your next patient is a 48 year old male by the name of Mike Litoris. His partner states that his memory is getting worse and that he is unable to concentrate. Mr Litoris agrees and says for the past year he has developed involuntary movements of his fingers and toes. What disease may you suspect in this patient? Huntington’s Chorea What would DNA analysis in this patient reveal? Expanded trinucelotide repeat (CAG) on chromosome 4 affecting huntington protein Like the excellent Dr you are you take a fantastic history and it is revealed that his mother also had the disease. What is the inheritance pattern of Huntington’s Disease? Autosomal Dominant He says it is strange however as she was much older when she started to develop symptoms, and indeed they were not as severe when they came on. What characteristic is this genetic disorder displaying? Anticipation

Your next patient comes in and has the eye sign below. What is the name of this sign? What disease is it indicative of? What else is Wilson’s Disease known as? Hepatolenticular Disease What causes it? a) Copper deposits in the basal ganglia b) Alpha-synuclein forming eosinophilic intracellular inclusions c) Kernicterus (hyperbilirubinamia induced neurological damage)

Your next patient comes in and has the eye sign below. What is the name of this sign? What disease is it indicative of? What else is Wilson’s Disease known as? Hepatolenticular Disease What causes it? Copper deposits in the basal ganglia WILSON’S Alpha-synuclein forming eosinophilic intracellular inclusions PARKINSON’S Kernicterus (hyperbilirubinamia induced neurological damage) ATHETOSIS

In your teams to match words to their meanings Chorea Athetosis Ballismus Dytonias Tics Small involuntary movement Lasting muscle spasms, that cause repeated twisting movemens or altered posture Involuntary, irregular, random dance-like, flowing movements which flit from one part of the body to another Slow, irregular sinuous writhing movements, often of the fingers. Large violent, proximal, flinging movements of the limbs.

Chorea Athetosis Ballismus Dytonias Tics Small involuntary movement Lasting muscle spasms, that cause repeated twisting movemens or altered posture Involuntary, irregular, random dance-like, flowing movements which flit from one part of the body to another Slow, irregular sinuous writhing movements, often of the fingers. Large violent, proximal, flinging movements of the limbs. In your teams to match words to their meanings