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PROGRESSIVE MYOCLONIC EPILEPSY
Dr. Sachin Adukia
PROGRESSIVE MYOCLONIC EPILEPSY
“group of familial neurodegenerative disorders c/b myoclonus with
epileptic seizures and progressive neurologic decline”
 Neurodegenerative, Lysosomal storage disorders
 AR
 Characterized by progressive intellectual and motor deterioration, seizures, and
early death
 Visual loss is a feature of most forms
NEURONAL CEROID-LIPOFUSCINOSES (NCLs)
 Types:
 Infantile
 Late-infantile
 Juvenile
 Adult
 Northern epilepsy (or progressive epilepsy with mental retardation)
The most prevalent NCLs are
 CLN3 disease, classic juvenile
 CLN2 disease, classic late infantile
CLN3 disease, classic juvenile
 Onset is usually between ages four and ten years.
 Rapidly progressing visual loss resulting in severe visual impairment within
one to two years is often the first clinical sign.
 Epilepsy – GTCS and/or CPS- around age ten years.
 Life expectancy ranges from the late teens to the 30s.
CLN2 disease, classic late infantile:
 Age 2-4 years
 Usually starting with epilepsy f/b regression of developmental milestones,
myoclonic ataxia, and pyramidal signs.
 Visual impairment at age four to six years and rapidly progresses to light
/dark awareness only.
 Life expectancy ranges from age six years to early teenage.
Adult NCL (ANCL)
 Onset: around age 30 years,
 Death occurs about ten years later.
 Ophthalmologic studies are normal.
Histopathology and Ultrastructural Studies
Light microscopy:
PAS and Luxol Fast Blue positive, auto fluorescent intracellular ceroid material, neurons and astrocytes
in the grey matter
Electron Microscopy (skin)
(1) Infantile NCL—granular bodies/GRODs
(2) Late infantile NCL—curvilinear bodies (CV)
(3) Juvenile NCL—finger print bodies (FP)
(4) Adult onset NCL -- varied forms and combination of inclusions
Electron microscopy (Brain)
 Curvilinear , lamellar and electron dense inclusions in neurons, astrocytes and vascular endothelial
cells
MRI findings
 Presence of cerebellar/cerebral atrophy, leucoencphalopathy and thalamic
T2W-hypointensity
 I-NCL: leucoencphalopathy and thalamic hypointensity (T2W)
 LI-NCL: periventricular and parieto-occipital hyperintensities
 J-NCL: cerebellar atrophy
Treatment
• Lamotrigine (LTG), valproic acid (VPA), clonazepam (CZP)
• Lamotrigine may exacerbate Sz and myoclonus especially in CLN2 disease.
• Benzodiazepines -- benefit for seizures, anxiety, spasticity, and sleep disorders.
• Carbamazepine (CZP) and phenytoin -- may increase seizure activity and
myoclonus
LAFORA BODY DISEASE
• Autosomal recessive; stimulus-sensitive PME
• Two genes: Laforin (EPM2A) and Malin (NHLRC1)
• Onset in the late childhood or adolescence
• C/F
• Focal visual occipital seizure
• Myoclonus
• Visual deterioration
• Psychoses
• Rapid intellectual decline with the development of dementia
• Imaging
• Diffuse cortical atrophy without any parenchymal changes
Electrophysiology
• EEG background slows, alpha-rhythm and sleep features are lost with
progression, and photosensitivity with fast frequency (>30 Hz)
stimulation
• replete with paroxysms of generalized irregular spike-wave
discharges with occipital predominance and focal, especially
occipital abnormalities
• Giant SSEP, VEP: Enhanced cortical excitability
Pathology
• Lafora body inclusions
• Oval to round shaped PAS positive, diastase resistant
• Positive for Lugol’s Iodine and ubiquitin immune-staining
• Inclusions (Lafora bodies) are seen in the cerebral and cerebellar cortex and
in brain stem nuclei
• Inclusions are also seen in other organs including liver, muscle, and skin
Treatment
 Valproic acid : controls both GTCS and myoclonic jerks
 Clonazepam - adjunctive
 Zonisamide - both seizures and myoclonus
 piracetam and levetiracetam - add-on treatment
UNVERRICHT LUNDBERG DISEASE
(BALTIC MYOCLONIC EPILEPSY)
 neurodegenerative disorder
 Unverricht (1891) & Lundborg (1903)
 AR
 Age of onset: 6-15 yrs
 Most common and Least severe type of progressive myoclonus epilepsy
 Life expectancy may not be affected
 Disability is mainly due to myoclonus, GTCS and ataxia
Clinical features
 Action induced and stimulus-sensitive myoclonus
 First in 50% and essential symptom
 Focal or multifocal
 Affect predominantly the proximal muscles of the extremities
 Tonic-clonic epileptic seizures
 Ataxia, in co-ordination, intentional tremor and dysarthria
 No optic atrophy, and there are no long-tract signs
Electrophysiology
 background activity varies from normal to mildly slowed
 Marked photosensitive, generalized SW and polyspike-and-wave
paroxysms
Pathophysiology
 Defective function of cystatin B, a cysteine protease inhibitor, as a
consequence of mutations in CSTB
 The causative gene, EPM1, localized to chromosome 21q22.3
Treatment
• Symptomatic rehabilitative management are the mainstay
• Valproic acid: Drug of choice -- Diminishes myoclonus and freq of generalized
seizures
• Clonazepam: Only drug approved by FDA for myoclonic seizures --add-on
• Levetiracetam : -- effective for both myoclonus and generalized seizures
• Topiramate & zonisamide: Add-on
• High-dose piracetam -- useful in the treatment of myoclonus only
• Sodium channel blockers : should be avoided
• (carbamazepine, oxcarbazepine, phenytoin)
• GABA ergic drugs (tiagabine, vigabatrin)
• gabapentin and pregabalin
• May aggravate myoclonus and myoclonic seizures.
MYOCLONIC EPILEPSY WITH RAGGED-RED
FIBERS (MERRF)
 Mitochondrial cytopathy
 Mean age at onset 14.6 ± 5.8 years
 Maternal inheritance
 Mutations in the MT-TK gene are the most common cause of MERRF,
occurring in more than 80%
Clinical features
 Myoclonus, myopathy and spasticity
 Seizures, ataxia, peripheral neuropathy and dementia
 Deafness and optic atrophy
 Short stature and heart abnormalities, cardiomyopathy
 Lipomas
Electrophysiology and Imaging
Electrophysiology
 EEG:
 Slowing of background activity
 Generalized epileptiform discharges
 ENMG:
 Neuropathy and myopathy
 SSEP
 Giant potentials
 Imaging
 Diffuse atrophy of cerebrum, brainstem, and cerebellum
 Basal ganglia calcification
Dentato rubral-pallidoluysian atrophy
 AD
 Triplet repeat expansion
 Adoloscent or childhood onset
 Ataxia, choreoathetosis, dementia
 Neuronal loss and gliosis in dentatorubral and pallidoluysian systems
Differential diagnosis to PME
 IGE syndrome patients treated with inappropriate AED
 LGS/Symptomatic generalised epilepsy
 Progressive encephalopathies with seizures
(Myoclonus is not the clinical core)
 GM2 gangliosidosis
 Non-ketotic hyperglycinemia
 Niemen pick type C
 Juvenile Huntington’s disease
 Alzheimer's disease
 Post anoxic myoclonus- No progression
 Progressive myoclonic ataxia- No evidence of dementia
 Overlaps with spinocerebellar ataxia, celiac disease, whipple disease
 Benign myoclonic epilepsy of childhood and adult hood.
 Benign familial myoclonus
PME – Neuro-ophthalmology
PME syndrome
Retinal degeneration/optic atrophy – MERRF
NCL
LBD
Cherry red spot – Neurosialidosis
NCL
With visual symptoms Without visual symptoms
ULD
Cherry red spot
Retinitispigmentosa
Optic atrophy
PME – Electrophysiology
PME syndrome
ULD
NCL
LBD
Giant SSEP Photosensitivity
LBD (Seizuresat high frequency)
NCL(Seizuresat high frequency)
Neuropathy
MERRF
PME – Neuroimaging
PME syndrome
NCL
LBD
Diffuse
atrophy
Bilateral
thalamic
involvement
NCL (T2
hypointensity)
Tay Sach’s
disease(B/L
thalamic
calcification)
Brainstem
atrophy
ULD
DRPLA
WM signal
changes
NCL
Tay Sach’s
disease
Flow chart for evaluation of PME
Prognosis
 The prognosis of all the PMEs is poor.
 worst prognosis -- the storage disorders (NCL and Lafora), where there is
associated dementia
 somewhat better -- Unverricht-Lundborg disease, can remain ambulant for
many years .
 The prognosis of MERRF -- highly variable; cases with an earlier onset
generally have a more rapid course.
References
1. CP Panayiotopoulos. A Clinical Guide to Epileptic Syndrome and their
Treatment. Diseases frequently associated with epileptic seizures. Revised 2nd
edition. London. Springer Healthcare Ltd, 2010; 233-254.
2. Malek N, et al. The progressive myoclonic epilepsies. Pract Neurol
2015;15:164–171.
3. P. Satishchandra, S. Sinha. Progressive myoclonic epilepsy. Neurology India
2010.
4. Franceschetti S,Michelucci R,et al.Progressive myoclonic epilepsies: Definitive
and still undetermined causes. Neurology 2014;82;405-411
5. Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review
of genetic and therapeutic aspects. Lancet Neurol 2005; 4: 239–48
THANK YOU

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Progressive myoclonic epilepsy

  • 2. PROGRESSIVE MYOCLONIC EPILEPSY “group of familial neurodegenerative disorders c/b myoclonus with epileptic seizures and progressive neurologic decline”
  • 3.
  • 4.  Neurodegenerative, Lysosomal storage disorders  AR  Characterized by progressive intellectual and motor deterioration, seizures, and early death  Visual loss is a feature of most forms NEURONAL CEROID-LIPOFUSCINOSES (NCLs)
  • 5.  Types:  Infantile  Late-infantile  Juvenile  Adult  Northern epilepsy (or progressive epilepsy with mental retardation) The most prevalent NCLs are  CLN3 disease, classic juvenile  CLN2 disease, classic late infantile
  • 6. CLN3 disease, classic juvenile  Onset is usually between ages four and ten years.  Rapidly progressing visual loss resulting in severe visual impairment within one to two years is often the first clinical sign.  Epilepsy – GTCS and/or CPS- around age ten years.  Life expectancy ranges from the late teens to the 30s.
  • 7. CLN2 disease, classic late infantile:  Age 2-4 years  Usually starting with epilepsy f/b regression of developmental milestones, myoclonic ataxia, and pyramidal signs.  Visual impairment at age four to six years and rapidly progresses to light /dark awareness only.  Life expectancy ranges from age six years to early teenage.
  • 8. Adult NCL (ANCL)  Onset: around age 30 years,  Death occurs about ten years later.  Ophthalmologic studies are normal.
  • 9. Histopathology and Ultrastructural Studies Light microscopy: PAS and Luxol Fast Blue positive, auto fluorescent intracellular ceroid material, neurons and astrocytes in the grey matter Electron Microscopy (skin) (1) Infantile NCL—granular bodies/GRODs (2) Late infantile NCL—curvilinear bodies (CV) (3) Juvenile NCL—finger print bodies (FP) (4) Adult onset NCL -- varied forms and combination of inclusions Electron microscopy (Brain)  Curvilinear , lamellar and electron dense inclusions in neurons, astrocytes and vascular endothelial cells
  • 10. MRI findings  Presence of cerebellar/cerebral atrophy, leucoencphalopathy and thalamic T2W-hypointensity  I-NCL: leucoencphalopathy and thalamic hypointensity (T2W)  LI-NCL: periventricular and parieto-occipital hyperintensities  J-NCL: cerebellar atrophy
  • 11.
  • 12. Treatment • Lamotrigine (LTG), valproic acid (VPA), clonazepam (CZP) • Lamotrigine may exacerbate Sz and myoclonus especially in CLN2 disease. • Benzodiazepines -- benefit for seizures, anxiety, spasticity, and sleep disorders. • Carbamazepine (CZP) and phenytoin -- may increase seizure activity and myoclonus
  • 13. LAFORA BODY DISEASE • Autosomal recessive; stimulus-sensitive PME • Two genes: Laforin (EPM2A) and Malin (NHLRC1) • Onset in the late childhood or adolescence • C/F • Focal visual occipital seizure • Myoclonus • Visual deterioration • Psychoses • Rapid intellectual decline with the development of dementia • Imaging • Diffuse cortical atrophy without any parenchymal changes
  • 14. Electrophysiology • EEG background slows, alpha-rhythm and sleep features are lost with progression, and photosensitivity with fast frequency (>30 Hz) stimulation • replete with paroxysms of generalized irregular spike-wave discharges with occipital predominance and focal, especially occipital abnormalities • Giant SSEP, VEP: Enhanced cortical excitability
  • 15. Pathology • Lafora body inclusions • Oval to round shaped PAS positive, diastase resistant • Positive for Lugol’s Iodine and ubiquitin immune-staining • Inclusions (Lafora bodies) are seen in the cerebral and cerebellar cortex and in brain stem nuclei • Inclusions are also seen in other organs including liver, muscle, and skin
  • 16. Treatment  Valproic acid : controls both GTCS and myoclonic jerks  Clonazepam - adjunctive  Zonisamide - both seizures and myoclonus  piracetam and levetiracetam - add-on treatment
  • 17. UNVERRICHT LUNDBERG DISEASE (BALTIC MYOCLONIC EPILEPSY)  neurodegenerative disorder  Unverricht (1891) & Lundborg (1903)  AR  Age of onset: 6-15 yrs  Most common and Least severe type of progressive myoclonus epilepsy  Life expectancy may not be affected  Disability is mainly due to myoclonus, GTCS and ataxia
  • 18. Clinical features  Action induced and stimulus-sensitive myoclonus  First in 50% and essential symptom  Focal or multifocal  Affect predominantly the proximal muscles of the extremities  Tonic-clonic epileptic seizures  Ataxia, in co-ordination, intentional tremor and dysarthria  No optic atrophy, and there are no long-tract signs
  • 19. Electrophysiology  background activity varies from normal to mildly slowed  Marked photosensitive, generalized SW and polyspike-and-wave paroxysms
  • 20.
  • 21. Pathophysiology  Defective function of cystatin B, a cysteine protease inhibitor, as a consequence of mutations in CSTB  The causative gene, EPM1, localized to chromosome 21q22.3
  • 22. Treatment • Symptomatic rehabilitative management are the mainstay • Valproic acid: Drug of choice -- Diminishes myoclonus and freq of generalized seizures • Clonazepam: Only drug approved by FDA for myoclonic seizures --add-on • Levetiracetam : -- effective for both myoclonus and generalized seizures • Topiramate & zonisamide: Add-on • High-dose piracetam -- useful in the treatment of myoclonus only
  • 23. • Sodium channel blockers : should be avoided • (carbamazepine, oxcarbazepine, phenytoin) • GABA ergic drugs (tiagabine, vigabatrin) • gabapentin and pregabalin • May aggravate myoclonus and myoclonic seizures.
  • 24. MYOCLONIC EPILEPSY WITH RAGGED-RED FIBERS (MERRF)  Mitochondrial cytopathy  Mean age at onset 14.6 ± 5.8 years  Maternal inheritance  Mutations in the MT-TK gene are the most common cause of MERRF, occurring in more than 80%
  • 25. Clinical features  Myoclonus, myopathy and spasticity  Seizures, ataxia, peripheral neuropathy and dementia  Deafness and optic atrophy  Short stature and heart abnormalities, cardiomyopathy  Lipomas
  • 26. Electrophysiology and Imaging Electrophysiology  EEG:  Slowing of background activity  Generalized epileptiform discharges  ENMG:  Neuropathy and myopathy  SSEP  Giant potentials  Imaging  Diffuse atrophy of cerebrum, brainstem, and cerebellum  Basal ganglia calcification
  • 27. Dentato rubral-pallidoluysian atrophy  AD  Triplet repeat expansion  Adoloscent or childhood onset  Ataxia, choreoathetosis, dementia  Neuronal loss and gliosis in dentatorubral and pallidoluysian systems
  • 28. Differential diagnosis to PME  IGE syndrome patients treated with inappropriate AED  LGS/Symptomatic generalised epilepsy  Progressive encephalopathies with seizures (Myoclonus is not the clinical core)  GM2 gangliosidosis  Non-ketotic hyperglycinemia  Niemen pick type C  Juvenile Huntington’s disease  Alzheimer's disease
  • 29.  Post anoxic myoclonus- No progression  Progressive myoclonic ataxia- No evidence of dementia  Overlaps with spinocerebellar ataxia, celiac disease, whipple disease  Benign myoclonic epilepsy of childhood and adult hood.  Benign familial myoclonus
  • 30. PME – Neuro-ophthalmology PME syndrome Retinal degeneration/optic atrophy – MERRF NCL LBD Cherry red spot – Neurosialidosis NCL With visual symptoms Without visual symptoms ULD
  • 32. PME – Electrophysiology PME syndrome ULD NCL LBD Giant SSEP Photosensitivity LBD (Seizuresat high frequency) NCL(Seizuresat high frequency) Neuropathy MERRF
  • 33. PME – Neuroimaging PME syndrome NCL LBD Diffuse atrophy Bilateral thalamic involvement NCL (T2 hypointensity) Tay Sach’s disease(B/L thalamic calcification) Brainstem atrophy ULD DRPLA WM signal changes NCL Tay Sach’s disease
  • 34. Flow chart for evaluation of PME
  • 35.
  • 36.
  • 37. Prognosis  The prognosis of all the PMEs is poor.  worst prognosis -- the storage disorders (NCL and Lafora), where there is associated dementia  somewhat better -- Unverricht-Lundborg disease, can remain ambulant for many years .  The prognosis of MERRF -- highly variable; cases with an earlier onset generally have a more rapid course.
  • 38. References 1. CP Panayiotopoulos. A Clinical Guide to Epileptic Syndrome and their Treatment. Diseases frequently associated with epileptic seizures. Revised 2nd edition. London. Springer Healthcare Ltd, 2010; 233-254. 2. Malek N, et al. The progressive myoclonic epilepsies. Pract Neurol 2015;15:164–171. 3. P. Satishchandra, S. Sinha. Progressive myoclonic epilepsy. Neurology India 2010. 4. Franceschetti S,Michelucci R,et al.Progressive myoclonic epilepsies: Definitive and still undetermined causes. Neurology 2014;82;405-411 5. Shahwan A, Farrell M, Delanty N. Progressive myoclonic epilepsies: a review of genetic and therapeutic aspects. Lancet Neurol 2005; 4: 239–48