Ataxia Flashcards

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1
Q

What are the clinical features of Friedrichs Ataxia?

A

Slowly progressive ataxia with onset before 25 years
Dysarthria
Cardiomyopathy (2/3)
Diabetes (1/3)

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2
Q

What is the genetic cause of Friedrichs Ataxia?

A

FXN gene

Autosomal Recessive
GAA repeats

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3
Q

What are the GAA repeat lengths in Friedrichs Ataxia?

A

Typical <33
Premutation: 34-65
Pathogenic >66

Reduced penetrance: 44-66

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4
Q

What should you do if you cannot find a second repeat expansion in Friedrichs Ataxia?

A

Gene sequencing / del / dup analysis (4%)

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5
Q

What are the features of FXTAS

A

Late-adult–onset neurodegenerative disorder
Affecting primarily male (and occasionally female) carriers of a premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 gene (FMR1)

Movement disorder with progressive intention tremor and gait ataxia, with more variable associated features of parkinsonism, dysautonomia, peripheral neuropathy, and dementia

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6
Q

What is the repeat expansion in FXTAS?

A

CGG
Premutation: 55-200

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7
Q

What is the testing strategy in triplet repeat disorders?

A

PCR with reflex to southern blot (can tell how much protein in there)

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8
Q

What is the most common cause of type 1 spinocerebellar ataxia?

A

CAG trinucleotide repeats in ATXN1 and ATXN7

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9
Q

What is ataxia?

A

Incoordination of Muscle movement
-Gait/ imbalance
-Limbs
-Speech
-Eye movements

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10
Q

What are some of the recessive ataxia?

A

-Friedreich ataxia (FA)
-Ataxia telangiectasia
-Abetalipoproteinemia
-Ataxia with isolated vitamin E deficiency (AVED)

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11
Q

What is the most common feature of spinocerebellar ataxia?

A

Cerebellar atrophy

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12
Q

What is the cause of SCA1, 2, 3, 6, 7, 17 and DRPLA?

A

CAG/polyQ trinucleotide expansion

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13
Q

What is the most common mutation in Friedreich ataxia?

A

96% of individuals with FRDA, is an abnormally expanded GAA repeat in intron 1 of FXN

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14
Q

Which type of spinocerebellar ataxia has visual impairment?

A

SCA7

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15
Q

What causes genetic stability in SCA2?

A

CAA interruptions

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