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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.

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Spinocerebellar Ataxia Type 8 (“SCA-8”)

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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’)


Spinocerebellar ataxia type 8 sca 8

MRI Scan


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


Spinocerebellar ataxia type 8 sca 8

  • The SCA-8 expansion is associated with neurological and upper motor neuron signs.

  • Are there also cognitive (specifically executive) and / or affective links?


The tests

The Tests

  • Methodology

  • Pre-Morbid IQ

  • Current FSIQ

  • Memory Screening

  • Executive Tests


Executive function tests

Executive Function Tests

  • 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...


Spinocerebellar ataxia type 8 sca 8

SCA- 8: Mean Scores

Controls: Mean Scores

FSIQ

Memory

Executive Tests


Spinocerebellar ataxia type 8 sca 8

Average WAIS III Index Scores

SCA-8 Subjects


Spinocerebellar ataxia type 8 sca 8

Control1

(Scores percentiles)

SCA- 8 (Atrophy): CB

(Scores percentiles)

FSIQ

Memory

Executive Tests


Results

RESULTS

  • 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


Spinocerebellar ataxia type 8 sca 8

PFSIQ: SCA-8 vs Controls


Spinocerebellar ataxia type 8 sca 8

Mean Executive Function Tests: SCA-8 vs Controls


Spinocerebellar ataxia type 8 sca 8

Stroop:SCA-8 vs Controls

COWAT: SCA-8 vs Controls


Spinocerebellar ataxia type 8 sca 8

TEA: SCA-8 vs

Controls

Hayling: SCA-8 vs

Controls

Brixton: SCA-8 vs

Controls


Aspects of executive function

ASPECTS OF EXECUTIVE FUNCTION?

  • 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” ?


Spinocerebellar ataxia type 8 sca 8

Is there an “affective” component?


Spinocerebellar ataxia type 8 sca 8

BDI-II

Mild

Minimal

HADS - Depression

Normal


Spinocerebellar ataxia type 8 sca 8

BAI

Moderate

Mild

Minimal

HADS - Anxiety

Normal


Anxiety symptoms reported

Anxiety Symptoms Reported

  • Wobbliness in legs

  • Unsteady

  • Numbness or Trembling

  • Hands Shaking

  • Shaky


Conclusions

Conclusions

  • 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

  • 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)


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