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Progressive Spastic Paraparesis
 

Progressive Spastic Paraparesis

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The case of a man who developed progressive gait disturbance and lower limb spasticity

The case of a man who developed progressive gait disturbance and lower limb spasticity

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    Progressive Spastic Paraparesis Progressive Spastic Paraparesis Presentation Transcript

    • Progressive Spastic Paraparesis AskTheNeurologist.Com Author Anon
    • R.A
      • 47 year-old man, M + 3, “ farmer”, Moroccan descent
      • 2 ½ - 3 year history of progressive leg weakness
    • History I
      • Jan 2001:-
      • Tripped and fell and hurt back
      • Suffered LBP radiating down R leg
      • First noticed leg weakness
    • History 2
      • Over following 2 years 9 months:-
      • Progressive leg stiffness
      • R leg affected predominantly
      • Gait difficulty
      • Frequency of urination…occasionally incontinent
    • History 3
      • July 2001:-
      • Hepatosplenomegaly found incidentally
      • Anaemia
      • Myelofibrosis diagnosed (bone marow bx)
      • Treatment commenced ( B12, Folate)
    • History 4
      • Denies
        • Arm involvement
        • Speech / visual disturbance
        • Cognitive involvement
    • History 5
      • In childhood normal acquisition of motor-milestones
      • No noticeable problems in walking, running or athletic ability in early life
    • Family History
      • Father:-
      • Age 40 began to suffer gait difficulty
      • Over 20 years progressed until bed-ridden with loss of sphincter control
      • Died aged 70 from “ pressure sores”
      • Arms, speech vision, cognition all unaffected at death
    • Family History II
      • Sister (aged 47):-
      • Suffered from LBP aged 39 “ discopathy”
      • 1 ½ years ago others noticed gait disturbance
      • 1 year ago RTA…from then on she noticed gait difficulty.
      • Recently urgency of micturition
    •  
    • Examination
      • Cognitively intact
      • Cranial nerves intact
      • Tone normal in arms, increased in legs
      • Power preserved in arms
      • Right leg 4+/ 5 global
      • Left leg 5/5
      • Reflexes increased Legs>>arms
      • Ankle and knee clonus bilaterally
      • Babinski bilaterally
      • Decreased vibration sense in legs
      • Sensory level mid-lower thoracic
      • Romberg mildly positive
      • No cerebellar signs
      • Gait spastic
      Examination II
    • Investigations I
      • CBC - normal
      • Biochem - normal
      • B12 - 596 (normal)
      • LP : - TP 368
      • - PMN 1 , LYM 0, RBC 1
      • - OCB -ve
      • Immunology:
        • ANA
        • ANCA
        • Anti Ro / La
        • Anti-cardiolipin antibodies
        • Immune electrophoresis
        • ALL NEGATIVE
      Investigations II
      • Infective:
        • HIV -ve
        • HTLV-1 pending
        • VDRL pending
      Investigations III
      • Imaging
        • Previous MRI of cervical, thoracic and lumbar – sacral cord all normal
        • Repeat thoracic MRI normal
      Investigations IV
    • DD
      • Infective : - HTLV – 1
      • - HIV
      • - Syphilis
      • Inflammatory - MS ( primary progressive)
      • Compressive - spondylosis
      • - neoplastic
      • Metabolic - B12 deficiency
      • Toxic - Lathyrism
      • Hereditary - Hereditary spastic paraparesis
      • Degenerative - Primary lateral sclerosis
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    • Stained with Luxol fast blue – stains myelinated axons
    • A L A L
    • Usually lose ability to walk by age 60-70 Usually ambulant until death from other cause More prominent weakness, sensory loss and urinary symptoms Weakness, Sensory loss and urinary symptoms less marked More rapidly evolving course Slower course Onset after 35 years Onset before 35 years TYPE II TYPE I
    •  
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    • HSP caused by impaired development of the corticospinal tract
    •  
    • PLP mutation
      • PLP ( proteolipid protein) is one of major protein components of CNS myelin
      • A mutation at same locus is responsible for disease “ Pelizaeus-Merbacher” disease ( severe disease due to hypomyelination of CNS)
    •  
    • Paraplegin
      • Codes for type of metalloprotease known as AAA metalloprotease.
      • Shown ( via immunofluorescence) to localise to within mitochondia.
      • Muscle biopsies of affected patients show evidence of mitochondrial dysfunction:
      • - e.g. Ragged – red fibres, cytochrome – oxidase negative fibres
      • Severity of muscle findings correlates with severity of HSP!
      • Relevance of muscle changes unclear
      Paraplegin II
      • AAA metalloproteases are invloved in “ chaperone-like” activity as well as other intracellular functions
      • Can participate in protein quality-control via binding to aberrantly-folded peptides and directing them towards proteolysis.
      Paraplegin III
      • ? accumulation of aberrant peptides within the mitochondria results in mitochondrial dysfunction
      • Ultimately results in energy deficit for cell
      • Fits-in well with late age of onset
      • Ubiquitous expression of paraplegin…..selective dysfunction may reflect high metabolic demand
      Paraplegin II
    •  
    • Treatment options
      • Antispasticity drugs ( e.g baclofen)
      • Regular physiotherapy
      • Botox injections
      • Minor surgical procedures
    • Follow-Up
      • A novel mutation in the SPG4 (spastin) gene was subsequently isolated in this family