Mayo Clinic 2 - 26 - Cerebellar Disorders And Ataxias

Front 1

Approach to diagnosing ataxia

Back 1

1. Family history?

2. Age at onset

3. Rate of disease progression

4. Presence of pure cerebellar syndrome or other neurologic signs

5. Systemic findings

6. Imaging findings

Front 2

Acquired ataxia with onset in infancy

Back 2

Ataxic cerebral palsy, intrauterine insult

Front 3

Genetic disease with ataxia onset in infancy (2)

Back 3

1. Joubert syndrome

2. Gillespie syndrome

Front 4

Acquired diseases with onset of ataxia in childhood (6)

Back 4

1. Acute cerebellitis

2. Abscess

3. Posterior fossa tumor

4. AVM

5. Congenital disorder (e.g., Dandy Walker)

6. Toxic or metabolic disorder

Front 5

Genetic disease with ataxia onset in childhood (5)

Back 5

1. Friedreich ataxia

2. Other recessive ataxias

3. Episodic ataxia

4. Mitochondrial disease

5. DRPLA, SCA types 2,7, and 13

Front 6

Acquired ataxias with onset in young adulthood? (6)

Back 6

1. Infection

2. HIV

3. Tumor

4. Vascular disease

5. Autoimmune disease

6. Toxic and metabolic disorders

Front 7

Genetic causes of ataxias with onset in young adulthood? (2)

Back 7

1. FA

2. SCAs (spinocerebellar ataxia)

Front 8

Acquired ataxia with a sudden onset most likely points to

Back 8

Stroke

Front 9

Acquired ataxia with an acute onset of hours to days most likely points to (4)

Back 9

1. Wernicke encephalopathy

2. Autoimmune (Miller Fisher syndrome, MS)

3. Parainfectious or infectious disease

4. Toxic disorder

Front 10

Acquired ataxia/cerebellar disorder with a subacute onset of weeks (7)

Back 10

1. Paraneoplastic

2. Gluten

3. Glutamic acid decarboxylase (GAD)

4. Steroid-responsive encephalopathy associated with autoimmune thyroiditis (SREAT)

5. Tumors, posterior fossa mass

6. Infection (HIV, CJD)

7. Metabolic

Front 11

Acquired ataxia/cerebellar disorder with a chronic, months to years, rate of progression (5)

Back 11

1. Structural lesion

2. Craniovertebral junction lesion

3. Alcohol abuse

4. Idiopathic cerebellar MSA

5. Olivopontocerebellar atrophy (OPCA)

Front 12

Differential diagnosis of cerebellar disorders and ataxia with abnormal craniocertebral junction on neuroimaging? (3)

Back 12

1. Arnold-Chiari malformation

2. Alexander disease

3. Basilar invagination

Front 13

Differential diagnosis of cerebellar disorders and ataxia with signal change, middle cerebellar peduncle?

Back 13

FXTAS

Front 14

Differential diagnosis of cerebellar disorders and ataxia with pure cerebellar atrophy on neuroimaging? (5)

Back 14

1. Pure cerebellar syndrome:

A. SCA types 5 and 6

B. Idiopathic cerebellar atrophy

C. Toxic disorder

D. Autoimmune disease

E. Paraneoplastic disease

Front 15

Differential diagnosis of cerebellar disorders and ataxia with cervical cord atrophy on neuroimaging?

Back 15

1. FA (Friedreich Ataxia)

2. AVED (Ataxia with Vitamin E Deficiency)

Front 16

Primary tumors that preferentially affect the cerebellum (5)

Back 16

1. Pilocytic astrocytoma

2. Cerebellar hemangioblastoma

3. Medulloblastoma

4. Choroid plexus papilloma

5. Ependymoma

Front 17

Impaired balance or gait related to hypoparathyroidism is due to?

Back 17

Pathologic changes in the midline cerebellum

Front 18

Triad of Wernicke encephalopathy

Back 18

1. Ataxia

2. Encephalopathy

3. Ocular abnormalities

Front 19

Chronic alcohol toxicity causes cerebellar degeneration through two main mechanisms

Back 19

1. Direct toxicity

2. Thiamine deficiency

(or both)

Front 20

Atrophy of ____ and ___ causes a ___ cerebellar syndrome with ___, ___ ___ and ____ ataxia with relative sparing of other cerebellar signs

Back 20

the superior and anterior vermis; midline cerebellar syndrome; progressive, prominent truncal and gait ataxia

Front 21

Solvent that cause ataxia? Findings?

Back 21

1. Toluene from inhaling fumes of spray paint or paint thinners

2. Ataxia with cognitive impairment and spasticity

Front 22

Which second-generation anticonvulsants do not produce ataxia?

Back 22

1. Levetiracetam

2. Gabapentin

Front 23

Common cause of late-onset sporadic progressive cerebellar ataxia?

Back 23

Cerebellar type of MSA

Front 24

MRI findings in MSA

Back 24

1. Brainstem and cerebellar atrophy

2. Characteristic "hot-cross-bun" sign

Front 25

Role of polysomnography in MSA?

Back 25

1. Assess for stridor, a preventable cause of respiratory arrest and sudden death

2. REM sleep behaviour disorder supports a diagnosis of MSA

Front 26

MRI findings in superficial siderosis

Back 26

Iron and hemosiderin, often from suppretitious bleeding, are deposited on pial and subpial brain surfaces. MRI shows low signal intensity on T2-weighted imaging, with a black rim on posterior fossa structures

Front 27

Back 27

T2-weighted sequence from MRI of the brain shows areas of hemosiderin deposition along the cerebellar folia

Front 28

Back 28

T2-weighted sequence from MRI of the brain shows areas of hemosiderin deposition surrounding the brainstem

Front 29

Back 29

T2-weighted sequence from MRI of the brain shows areas of hemosiderin deposition along the sulci

Front 30

Most common autosomal recessive inherited ataxia

Back 30

Friedreich ataxia, affecting 1 in 50,000 whites

Front 31

Repeat sequence involved in Friedreich ataxia?

Back 31

GAA triplet in the first intron of the FRDA gene; 66-1,000 repeats is present on both alleles in more than 95% of affected persons

Front 32

Classic features of Friedreich ataxia (4)

Back 32

1. Onset before age 20

2. Progressive gait and leg climsiness

3. Scoliosis

4. Dysarthria and upper limb ataxia emerge later

Front 33

Diagnosis of Friedreich ataxia? (3)

Back 33

1. EMG shows reduced or absent sensory nerve action potentials, normal compound motor action potentials

2. MRI shows upper cervical cord atrophy and possible dorsal column signal change

3. Gene testing is confirmatory

Front 34

Experimental treatments of Friedreich ataxia? (3)

Back 34

1. Gene replacement

2. EPO

3. Therapies to improve frataxin transcription

Front 35

Clinical course of Friedreich ataxia

Back 35

Slow progression, with wheelchair dependence 15 years after onset, and patients usually die in their late 30s (or 50s or 60s with milder phenotypes)

Front 36

Most common infantile-onset cerebellar ataxia?

Back 36

Ataxia-telangiectasia, prevalence is 1 per 20,000 to 1 per 100,000 persons

Front 37

Gene involved in ataxia-telangiectasia?

Back 37

ATM gene, located on chromosome 11q22-q23

Front 38

Usual age at onset of ataxia-telangiectasia and clinical features

Back 38

1 to 2 years, with truncal ataxia followed by clumsy hands and slurred speech, followed by conjunctival telangiectasias at about age 5

Front 39

Diagnosis of ataxia-telangiectasia

Back 39

Usually increased AFP and low serum immunoglobulin levels; chromosomal abnormalities are common on karyotyping

Front 40

Treatment of ataxia-telangiectasia

Back 40

1. Supportive with rehabilitation

2. Monitoring for infection and malignancy

3. Screening for endocrinopathies and diabetes mellitus

Front 41

Back 41

Ocular telangiectasia as seen in ataxia-telangiectasia

Front 42

Underlying mechanism of ataxia with isolated vitamin E deficiency?

Back 42

Mutations in a transfer gene that is responsible for transporting vitamin E into chylomicrons in the liver; thus, impaired hepatic processing rather than malabsorption underlies the vitamin E deficiency

Front 43

Treatment of ataxia with vitamin E deficiency?

Back 43

High-dose vitamin E

Front 44

Diagnosis of ataxia with vitamin E deficiency?

Back 44

Detection of tocophol mutation

Front 45

Patients with abetalipoproteinemia have (3)

Back 45

low serum levels of cholesterol and fat soluble vitamins; no apolipoprotein B; and peripheral blood acanthocytes

Front 46

What is ataxia with oculomotor apraxia type 2?

Back 46

1. Second most common autosomal recessive ataxia after FA in Europe

2. Progressive ataxia starts in the mid-teenaged years, and patients are wheelchair bound by age 30

3. Oculomotor apraxia occurs in 50% of patients

Front 47

Diagnosis of oculomotor apraxia type 2? (3)

Back 47

Based on elevated levels of AFP, axonal polyneuropathy, and marked cerebellar atrophy

Front 48

Ataxia with mental retardation, microcephaly, seizyures, pyramidal and extrapyramidal signs, and photosensitivity is characteristic of

Back 48

1. Cockayne syndrome (AR chromosome 5 or AD chromosome 5)

2. Xeroderma pigmentosum

Front 49

Difference between Cockayne syndrome and xeroderma pigmentosum?

Back 49

1. Cockayne - basal ganglia calcification on CT

2. Xeroderma pigmentosum - skin tumors

Front 50

Early-childhood onset of spasticity, ataxia, and amyotrophy of distal muscles

Back 50

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Front 51

Onset of Refsum disease?

Back 51

Second to third decade

Front 52

Refsum disease is characterized by? (6)

Back 52

1. Relapsing-remitting course of early pigmentary retinal degeneration and night blindness

2. Demyelinating sensorimotor polyneuropathy

3. Sensorineural deafness

4. Ataxia

5. Ichtyosis

6. Cardiac arrhythmias

Front 53

Patients with vanishing white matter leukoencephalopathy have (5)

Back 53

1. Progressive ataxia

2. Seizures

3. Cognitive deficits

4. Spasticity

5. Optic atrophy

Front 54

Pathologic findings in vanishing white matter leukoencephalopathy

Back 54

Diffuse leukoencephalopathy with astrocytic dropout and "foamy" oligodendrocytes

Front 55

Autosomal recessive disorder characterized by optic atrophy and cerebellar ataxia with onset in early childhood

Back 55

Behr syndrome

Front 56

Dandy-Walker malformation is characterized by

Back 56

1. Cystic dilation of the fourth ventricle

2. Cerebellar vermis dysplasia

Front 57

Dandy-Walker malformation is associated with (4)

Back 57

1. Corpus callosum agenesis

2. Cortical heterotopias

3. Cerebral gyral abnormalities

4. Occipital encephalocephe, syringomyelia, aqueductal stenosis, and hemimegalencephaly

Front 58

Classic Joubert syndrome (type 1) (6)

Back 58

1. Infantile onset of hypotonia

2. Developmental delay -> Mental retardation

3. Ataxia

4. Abnormal breathing patterns

5. Oculomotor apraxia

6. Nystagmus and ptosis

Front 59

"Molar tooth" sign

Back 59

Brainstem abnormalities that resemble a tooth; may be seen in Joubert syndrome

Front 60

Early-onset ataxia with retained reflexes

Back 60

Begins in childhood or early adulthood and is similar to FA but with preserved deep tendon reflexes; genetic testing for FA is positive in some cases

Front 61

Subtype of Ramsay Hunt syndrome that is caused by a mutation in the gene on chromosome 21q that encodes for cystatin B

Back 61

Unverricht-Lundborg disease (Baltic myoclonus)

Front 62

Rare autosomal recessive ataxias that I will not dwell on

Back 62

1. Infantile-onset olivopontocerebellar atrophy

2. Cayman ataxia

3. Autosomal recessive cerebellar ataxia type 1 and 2

Front 63

Infantile-onset olivopontocerebellar atrophy

Back 63

Ophthalmoplegia, deafness, dysarthria, optic atrophy and seizures by schoolage. Dementia, ataxia and wheelchair bound by the late teenaged years.

Front 64

How are spinocerebellar ataxias grouped?

Back 64

By the Harding's original criteria

Front 65

Age at onset of SCAs?

Back 65

Early to middle adulthood, with a wide range

Front 66

Useful findings for diagnosing subtype of SCA?

Back 66

1. Upper motor neuron signs

2. Ophthalmologic findings

Front 67

MRI findings in patients with SCA

Back 67

1. Cerebellar atrophy

2. Atrophy of the pons, medulla middle cerebellar peduncles, and upper cervical cord

2. T2 hyperintensity "hot cross bun" sign can be seen with brainstem signs

Front 68

Mutation in SCA type 1?

Back 68

Unstable CAG repeat on chromosome 6p, coding for ataxin-1

Front 69

Back 69

T1-weighted MRI from a patient with SCA type 2 shows marked pontocerebellar atrophy

Front 70

Most common SCA?

Back 70

Machado-Joseph disease, SCA3; CAG repeat expansion in chromosome 14q

Front 71

Most prominent features in SCA3

Back 71

Levodopa-responsive parkiinsonism or dystonia

Front 72

Causes of episodic ataxia (5)

Back 72

1. Vascular

2. Toxins and medications

3. Paroxysmal disorders

4. Structural

5. Genetic

Front 73

Cause of dentatorurbral-Pallidodoluysian atrophy

Back 73

DRPLA is caused by an unstable CAG trinucleotide repeat expansion in a gene that codes for atrophin-1