epilepsy and movement disorders - bdfa
TRANSCRIPT
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Batten disease, epilepsy and movement disorders
Barbara Csányi
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Aims:
To learn
• Basic anatomy & physiology of the brain
• Batten Disease
• Epilepsy
• Movement disorders
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Anatomy and Physiology of the brain
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The brain performs an incredible number of tasks including the following
• Vital functions of the body: it controls body temperature, bloodpressure, heart rate and breathing.
• It accepts a flood of information about the world around youfrom your various senses (seeing, hearing, smelling, tasting andtouching).
• It handles your physical movement when walking, talking,standing or sitting.
• Cognitive functions: It lets you think, dream, reason andexperience emotions.
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Lobes of the brain
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The nervous system
Building blocks: neurons transmit information in the form of electrical signals which
travel along the axon – nerve impulses 100 billion nerve cells - about the same as the number of trees
in the Amazon rainforest. Each cell is connected to around 10,000 others. Total number
of connections: about 1000 trillion ( the same as the number of leaves in the rainforest)
Structural and maintenance cells: glial cells.
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Batten disease
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What is Batten Disease?– Batten’s disease: umbrella term for 14 subtypes.
– Also called: Neuronal ceroid lipofuscinoses (NCL or CLN)1,2,…14. Lipo (greek, fat) Fuscus (Latin, dark).
– Accumulation of ceroid lipofuscin in the cells. Morespecifically in the organelle called: LYSOSOME----- Battendisease is one of the lysosomal disease.
– The accumulation happens because there is a missingenzyme.
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Batten disease
• Very rare: prevalence of approximately 1.5 to nine per millionpopulation
• Cause: genetic. Every subtype has a responsible gene. Alldifferent, different genes involved
• No cure (???)
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Clinical presentation
Newborn with epilepsy and microcephaly
Young child (>6 months) with developmental standstill or regression and/or newly occurring severe epilepsy of unknown cause
School child with visual loss and/or dementia and epilepsy
Young adult with non-specific mental, motor, or behavioral abnormalities
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Name Gene Symbol Clinical Phenotype Missing enzyme’s name
CLN1 PPT1 Infantile classic Palmitoyl-protein thioesterase 1
CLN2 TPP1 Late-infantile classic Tripeptidyl-peptidase 1
CLN3 CLN3 Juvenile Battenin
CLN4 DNAJC5 Adult DnaJ homolog subfamily C member 5
CLN5 CLN5 Late-infantile variantAdult
Ceroid-lipofuscinosis neuronal protein 5
CLN6 CLN6 Early-juvenile variant and late-infantile variant
Ceroid-lipofuscinosis neuronal protein 6
CLN7 MFSD8 Late-infantile variant Major facilitator superfamily domain-containing protein 8
CLN8 CLN8 late-infantile variant Protein CLN8
CLN9 Unknown Unknown
CLN10 CTSD Congenital, late-infantile, Adult
Cathepsin D
CLN11 GRN Granulins
CLN12 ATP13A2 Probable cation-transporting ATPase 13A2
CLN13 CTSF Cathepsin F
CLN14 KCTD7 BTB/POZ domain-containing protein KCTD7
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What happens to the brain?
The lipofuscin builds up in all cells of the body but specificallydamage certain parts of the brain (responsible for cognitivefunction, movements etc.) and the eyes.
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They all have a mix of (symptoms):
• Loss of sight• Epilepsy of different types• Initially normal but later: cognitive decline - dementia• Movement disorders of different types• Behavioural problems • Sleeping problems
• Age of death: depends of the type of Batten and on the person
• Cause of death: usually infection (respiratory) / cardiac arrest /
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Epilepsy
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What is an epileptic seizure?
• Sudden but transient event during which there is excessive electric brain activity causing different signs and/or symptoms.
• They are polymorphic but they are bespoke too
• They can be very obvious (e.g. when they cause whole body jerks) or can be very subtle (e.g. when they only cause a short episode of staring and intellectual disconnection).
• They don’t always mean emergency
• There usually no warning signs before.
• Majority of them are forgotten.
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What is epilepsy and status?
• Epilepsy: the disease in which the patient has disposition of having epileptic seizures. Basically after two or more seizures epilepsy can be diagnosed.
• Status epilepticus: continuous seizure activity or repeated small seizures last 30 minutes or more without recovery to baseline consciousness. It is life threatening
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Epilepsy in Batten • Very frequent, can be the first sign (CLN2) or a later
complication (CLN3)
• Most frequest types are: – Generalised tonic - clonic seizures (or as often called by the
families: “big” seizures).
– Absence seizures: unresponsiveness (staring)
– Myoclonic seizures: short muscle contraction (in a shock like fashion) in a small or bigger group of muscles.
– Focal seizures: they can manifest in different ways
(e.g.: they can change muscle movements,
or change how people think, feel,
or experience things).
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Myoclonic jerks and head drops
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Absence seizure
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A focal seizure
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Tonic-clonic seizure and first aid
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Epilepsy in Batten
• Become uncontrollable
• Different medications for different types of seizures, question of finding the right one and this can take time
• Side effects for some medication
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Movement disorders
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Dystonia
• a movement disorder characterised by sustained orintermittent muscle contractions causing abnormal, oftenrepetitive, movements, postures, or both.
• Dystonic movements are typically patterned, twisting, andmay be tremulous.
• Dystonia is often initiated or worsened by voluntarymovements.
• May stay or come and go
• Brain functions such as intelligence, memory and languagecan remain unaffected.
• Can be focal or generalised
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Dystonia
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Ataxia and postural instability
• Unsteady, clumsy uncoordinated way of walking, getting around.
• Greek word: "a taxis“: "without order or incoordination“
• Probably one of the most frequently seen movement problem inBatten disease.
• Can affect other movements/part of the body.
• Damage in the cerebellum
• Increased risk of falling.
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Chorea
• Involuntary, irregular, random and flowing movements whichcan look purposeful but they are somewhat irregular.
• Greek: dancing.
• Generally the patients look fidgety, restless with more or lessconstant irregular movements
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Other frequent movement problems in Batten
• Tremor: Is a rhythmic oscillating involuntary movementusually in the hands (shaky hands)
• Hypotonia: low muscle tone / floppiness
• Spasticity: increased muscle tone /stiffness or tightness.Opposite of hypotonia, but both can exist in the same patient
• Tics: Involuntary and irresistible purposeless repetitive movements of any muscles, can be vocal.Simple tics like wrinkling the nose or twitching with eyes.
• Parkinsonism: Slowness in the voluntary movements.
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How do we diagnose movement disorders?
• It’s not always easy
• No specific tests--- video recording helps
• Rely on medical history
• Important for physiotherapy and occupational therapy to get involved
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How do we treat movement disorders?
• Trihexyphenidyl : useful to treat dystonia.
• Baclofen: useful for spasticity and dystonia.
• Benzodiazepines: used not only to treat epilepsy but for myoclonus, dystonia and as a sedative drug for sleeping problems.
• Dantrolene: used in spasticity and dystonia.
• Antiepileptic drugs (like sodium valproate and levetiracetam) are used in dystonias and myoclonus.
• L-Dopa: can be tried in parkinsonism and tremor.
• Botox injections
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What do I do if a child becomes dystonic?
• Don’t try and restrain them
• Can gently reposition the child
• Give appropriate medication if prescribed
• Speak to parents, they know them best!
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Questions???