Neuromuscular

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Central nervous system involvement & Neuromuscular

Spinal Cord
Optic nerve
Hearing loss
Cerebellum
Supratentorial
Leukodystrophy


Spinal Cord Optic Nerve & Eye Hearing loss Cerebellum Supratentorial Childhood


Leukodystrophies & Leukoencephalopathies

Multi-Infarct Dementia (CADASIL)

  NOTCH 3 ; Chromosome 19p13.12; Dominant

Cerebral
Autosomal
Dominant
Arteriopathy with
Subcortical
Infarcts and
Leukoencephalopathy
  • Clinical
    • Onset: Adult
    • Ischemic events: Recurrent; Subcortical
    • Migraine
    • Cognitive dysfunction: Dementia; Psychiatric disorders
    • Neuropathy 3
      • Often subclinical
      • Occasional clinical features
        • Sensory loss (40%): Distal; Symmetric
        • Weakness (30%): Distal
        • Areflexia
  • Electrodiagnostic: Axon loss
    • NCV: Mildly slow motor & sensory
    • CMAP & SNAP: Reduced amplitudes
  • MRI
    • Leukoencephalopathy: Especially anterior temporal
    • Subcortical infarcts
  • Pathology
    • Angiopathy (Small arterial vessels)
      • Vessels: Granular deposition of material in smooth muscle layer
      • Staining: Congophilic, PAS positive material in vessel walls
      • Location: Brain; Skin; Muscle; Nerve
    • Peripheral nerve
      • Axon loss: Myelinated axons; Mild to moderate
      • Electron microscopy of peripheral nerve & muscle
        • Electron dense deposits associated with smooth muscle cells (vascular)

from R Schmidt MD
CADASIL
Vessels in brain


Chorea-Acanthocytosis (Neuroacanthocytosis)

  Vacuolar protein sorting 13, yeast, homolog of, A (VPS13A;Chorein) ; Chromosome 9q21.2; Recessive
  • Genetics: Mutations
    • Japanese: Frameshift deletion
    • Other: Missense & Nonsense
  • Protein function: ? Protein sorting
  • Epidemiology: Especially common in Japan
  • Onset: 3rd to 5th decade; Mean 32 years; Range 8 to 62 years
  • CNS
    • Movement disorders
      • Oro-facial-lingual dyskinesia
      • Chorea
        • Limbs, especially legs
        • Frequent but not all patients
      • Parkinsonism
    • Cortical: Dementia; Personality disorders; Seizures (50%)
    • Pathology
      • Neuronal loss & Gliosis
      • Locations: Caudate, Putamen, Pallidum & Substantia nigra  
  • PNS
    • Clinical
      • Motor
        • Distal wasting
        • Anterior horn cell loss
      • Sensory: Small SNAPs; Normal motor potentials
      • Tendon reflexes: Reduced or Absent
    • Laboratory
      • EMG: Distal denervation
      • Nerve pathology
        • Distal axonopathy
        • Loss of large myelinated axons
      • Muscle imaging: Distal symmetric wasting
      • Serum CK: May be elevated
  • Acanthocytosis

From: Leo Wang


Superficial Siderosis 1

  • General
    • Definition: Hemosiderin deposition along superficial (subpial) surfaces of CNS
    • Pathogenesis
      • Chronic bleeding into subarachnoid space
      • Uptake of iron by astrocytes & microglia
      • Most prominent involvement of nerves in regions with CNS myelin
    • Underlying causes: Intracranial bleeding
      • AVM
      • Neoplasms: Ependymoma
      • Dural disorders 2° surgery or trauma
      • Neonatal intracranial hemorrhage
      • Familial 2
        • Cerebral cavernous angiomas
        • Amyloidosis: Transthyretin
      • No bleeding source: 50%
  • Clinical features
    • Onset: 4 months to 30 years after initial intracranial bleeding
    • Sensorineural hearing loss (95%)
      • Bilateral
      • Sensorineural: Especially high tones
      • Auditory nerve has long region of CNS myelin
    • Cerebellar ataxia (88%)
      • Onset usually after hearing loss
    • Spinal cord
      • Pyramidal signs (76%)
      • Spinal myoclonus
      • Sphincters: Bladder disturbance; Anal sphincter paresis
    • Other
      • Dementia (24%)
      • Polyradiculopathy
        • Anatomy: Motor; Axonal
        • Weakness: Legs > Arms
      • Anosmia
      • Eye
        • Nystagmus
        • Ocular motility deficits: Smooth pursuit reduced
        • Reduced Pupil reflexes (Preganglionic)
    • Course: Slowly progressive
  • Laboratory
    • CSF
      • Cells: Increased
      • Ferritin: High
      • Protein: High
      • Xanthochromia
    • MRI (T2-weighted and gradient-echo): Marked hypointensity of CNS surfaces
   

From M Al-Lozi
Dark ring of hemosiderin deposition
around cervical spinal cord (MRI-T2)

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References
1. J Neurol 2001;248:63-64 ; J Neurol 2001;248:1099-1100, Neurology 1999;53:1130
2. Am J Med Genet 2004;130A:22-25
3. J Neurol 2005; Online April

1/17/2012