Spinocerebellar Ataxia Spinocerebellar Ataxia Type 8 Type 8 (“SCA-8”) (“SCA-8”) The Cognitive and Psychiatric The Cognitive and Psychiatric Profile Profile Lorna Torrens, Elaine Burns, Jon Stone, Mary Porteous, Adam Zeman, Helen Wright Robert Fergusson Unit, Royal Edinburgh Hospital; Western General Hospital, Edinburgh
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. - PowerPoint PPT Presentation
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Spinocerebellar Ataxia Type 8Spinocerebellar Ataxia Type 8(“SCA-8”)(“SCA-8”)
The Cognitive and Psychiatric Profile 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, 1998Case 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
Case History - ExaminationCase History - Examination
• Mild limb ataxia
• Dysarthric, slowed repetitive tongue movements
• MMSE 30/30
• ‘Buoyant’ mood, poor insight
Cognitive ScreeningCognitive 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’)
MRI ScanMRI Scan
Family HistoryFamily 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 Spinocerebellar Ataxia Type 8 (“SCA 8”)(“SCA 8”)
• Koob et al, Nature Genetics, 1999;21:379-384• Family: 21 affected, 20 unaffected carriers:• SCA-8 is a riskrisk 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 Reported Clinical Features of SCA-8SCA-8
• Cerebellar Signs (almost all)
• Upper Motor Neuron Signs (approx 50%)
• Cognitive Impairments:– 26% of 68 patients covered in 11 studies (crude
• 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 SCA-8 expansion is The SCA-8 expansion is associated with neurological associated with neurological
and upper motor neuron signs. and upper motor neuron signs.
Are there also cognitive Are there also cognitive (specifically executive) and / or (specifically executive) and / or