Spinocerebellar ataxia type 8 sca 8
Download
1 / 31

Spinocerebellar Ataxia Type 8 (“SCA-8”) - PowerPoint PPT Presentation


  • 109 Views
  • Uploaded on

Spinocerebellar Ataxia Type 8 (“SCA-8”). The Cognitive and Psychiatric Profile. Lorna Torrens, Elaine Burns, Jon Stone, Mary Porteous, Adam Zeman, Helen Wright Robert Fergusson Unit, Royal Edinburgh Hospital; Western General Hospital, Edinburgh. Case History - Referral, 1998.

loader
I am the owner, or an agent authorized to act on behalf of the owner, of the copyrighted work described.
capcha
Download Presentation

PowerPoint Slideshow about ' Spinocerebellar Ataxia Type 8 (“SCA-8”)' - eavan


An Image/Link below is provided (as is) to download presentation

Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author.While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server.


- - - - - - - - - - - - - - - - - - - - - - - - - - E N D - - - - - - - - - - - - - - - - - - - - - - - - - -
Presentation Transcript
Spinocerebellar ataxia type 8 sca 8

Spinocerebellar Ataxia Type 8(“SCA-8”)

The Cognitive and Psychiatric Profile

Lorna Torrens, Elaine Burns, Jon Stone, Mary Porteous, Adam Zeman, Helen Wright

Robert Fergusson Unit, Royal Edinburgh Hospital; Western General Hospital, Edinburgh


Case history referral 1998
Case History - Referral, 1998

  • 46 year old man with 5 year history:

  • neurological signs

    • slurred speech, ataxia, impaired dexterity

  • cognitive decline

    • forgetfulness, difficulty with divided attention

  • personality change

    • labile mood, aggressive outbursts, inflexibility


Case history examination
Case History - Examination

  • Mild limb ataxia

  • Dysarthric, slowed repetitive tongue movements

  • MMSE 30/30

  • ‘Buoyant’ mood, poor insight


Cognitive screening
Cognitive Screening

  • Predicted FSIQ 110

    but < 20th centile on:

    • Stroop

    • Trails A and B

    • Verbal/Category fluency

    • Immediate/delayed recall of story

    • Rey Osterreith figure

      Wisconsin (‘very poor’)



Family history
Family History

  • Mother, 75 years old

    • impulsive and inflexible from 40s

    • dysarthric

    • incongruous affect

    • category fluency: 6 (animals), 4 (letter)

    • failed Luria test (5 trials)


Spinocerebellar ataxia type 8 sca 81
Spinocerebellar Ataxia Type 8 (“SCA 8”)

  • Koob et al, Nature Genetics, 1999;21:379-384

  • Family: 21 affected, 20 unaffected carriers:

  • SCA-8 is a risk factor for expression of condition

  • DNA based triplet repeat disorder (as is Huntington’s Disease)

  • One of an enlarging family of SCAs

  • Unusual - the repeat expansion is transcribed but not translated

  • Myotonic Dystrophy - same mechanism


Reported clinical features of sca 8
Reported Clinical Features of SCA-8

  • Cerebellar Signs (almost all)

  • Upper Motor Neuron Signs (approx 50%)

  • Cognitive Impairments:

    • 26% of 68 patients covered in 11 studies (crude measures?)


Sca 8 demographics mri
SCA-8:Demographics, MRI


Sca 8 neuropsychiatric symptoms
SCA 8:Neuropsychiatric symptoms


Schmahmann sherman 1998 cerebellar cognitive affective syndrome
Schmahmann & Sherman 1998“Cerebellar Cognitive Affective Syndrome”

  • 20 Cases of Diseases confined to the cerebellum resulting in impaired executive function, visuo-spatial skills and memory. Personality change including disinhibition and blunting of affect



The tests
The Tests upper motor neuron signs.

  • Methodology

  • Pre-Morbid IQ

  • Current FSIQ

  • Memory Screening

  • Executive Tests


Executive function tests
Executive Function Tests upper motor neuron signs.

  • COWAT – Verbal Initiation, Speed

  • Stroop – Speed, sustained attention, attentional switching

  • Hayling and Brixton – Verbal initiation, suppression, speed, rule detection and following

  • TEA – Visual Elevator Subtest – attentional switching, speed

  • (MWCST)

  • (BADS 6 Elements)


The results

The Results... upper motor neuron signs.


SCA- 8: Mean Scores upper motor neuron signs.

Controls: Mean Scores

FSIQ

Memory

Executive Tests


Average WAIS III Index Scores upper motor neuron signs.

SCA-8 Subjects


Control upper motor neuron signs. 1

(Scores percentiles)

SCA- 8 (Atrophy): CB

(Scores percentiles)

FSIQ

Memory

Executive Tests


Results
RESULTS upper motor neuron signs.

  • Significant difference in performance executive function tests (p = 0.007)

  • Non significant trend towards difference in performance on Visual Memory

  • Main discrepancies stemming from Hayling (p = 0.005) and Stroop (0.015)

  • Least difference in performance on Brixton


PFSIQ: SCA-8 vs Controls upper motor neuron signs.



Stroop:SCA-8 vs Controls upper motor neuron signs.

COWAT: SCA-8 vs Controls


TEA: SCA-8 vs upper motor neuron signs.

Controls

Hayling: SCA-8 vs

Controls

Brixton: SCA-8 vs

Controls


Aspects of executive function
ASPECTS OF EXECUTIVE FUNCTION? upper motor neuron signs.

  • Verbal Initiation/Speed - COWAT (p = 0.10), Brixton (but controls)

  • Inhibition of automatic responses - Accuracy vs Speed (Hayling, Stroop 71 vs 56 secs for part I)

  • Processing “load” ?


Is there an “affective” component? upper motor neuron signs.


BDI-II upper motor neuron signs.

Mild

Minimal

HADS - Depression

Normal


BAI upper motor neuron signs.

Moderate

Mild

Minimal

HADS - Anxiety

Normal


Anxiety symptoms reported
Anxiety Symptoms Reported upper motor neuron signs.

  • Wobbliness in legs

  • Unsteady

  • Numbness or Trembling

  • Hands Shaking

  • Shaky


Conclusions
Conclusions upper motor neuron signs.

  • SCA-8 linked to cognitive change:

    • Executive Problems

    • PS (not necessarily linked to motor problems)

  • SCA-8 may have an affective component:

    • Mild depression (Insufficient to account for cognitive deficits)

    • Anxiety (may reflect cerebellar symptoms as opposed to affective disorder)


Future thoughts
Future Thoughts upper motor neuron signs.

  • Progression

    • re-test in approx 2 years

  • Mechanisms

    • results from present study do not elucidate the role of the cerebellum in cognition as SCA-8 may affect other brain regions (work underway)


ad