Spinocerebellar degernerations

Question 1

what are spinocerebellar degenerations

Answer 1

neuronal loss in the cerebellum, spinal cord, and peripheral nerves

Question 2

spinocerebellar ataxia is applied to a group of hereditary _ chararacterize by _ changes

SCA

Answer 2

ataxias

degenerative

autosomal dominant

Question 3

what are two types of SCA

Answer 3

friedreich ataxia and ataxia telangiesctasia

Question 4

friedreich atacia is a _ repeat on chromosoma _ with the _ protein

severity correlated with DECREASED levels of _

this disease process begins when?

symptoms: deep tendon relexes are absent but _ _ reflex is present

they have an increased risk of?

Answer 4

GAA trinucleotide repeat

chromosome 9

frataxin protein

frataxin

first decade of life

extensor plantar

cardiomyopathy , DM, and pulmonary infections

AR

Question 5

ataxia telangiectasias begin in _

death is when?

what kind of cancers do they get?

recurrent _ infections

mutation in the _ gene on chromosme _

failure to remove?

Answer 5

early childhood

by the second decade

lymphomas, gliomas

sinopulmonary infections

ATM, 11

damaged DNA

Question 6

ALS is a loss of?

who is affected more men or women?

mutations

_ mutation gives rise to ALS and FTLD at the same time

Answer 6

upper and lower motor neurons

men

SOD1 (21), TDP43, FUS

C9ORF72

Question 7

_ roots in ALS are thin

the _ _ is atrophic

and there is a decreased in _ horn neurons throughout the length of the cord

PAS+ esosinphilic inclusions:

skeltal muscle with neurogenic atrophy is due to _ loss

degeneration of corticospinal tracts and loss of mylinated fibers is due to loss of _

Answer 7

anterior

precentral gyrus

anterior horn

bunina bodies

LMN

UMN

Question 8

symptoms of ALS

Answer 8

early: asymmetric weakness of hands (drops objects, cant do fine motor tasks, cramping or arms and legs

fasciculations (involuntary muscle contractions)
pneumonia

Question 9

ALS can progress to _ _ _ which is when the LMN predominates

Answer 9

progressive muscular atrophy

Question 10

ALS can progress to _ _ _ when the UMN predominates

Answer 10

primary lateral sclerosis

Question 11

what is bulbar ALS

Answer 11

rapidly progressive speaking and swallowing difficulties

approximately a 50% chanve of survivial at years when bulbar involvement

Question 12

motor nuerons innervating the _ _ muscle are amoung the last to. be involved in ALS

Answer 12

extra ocular

Question 13

although ALs is considered a motor system disease a significant fraction of afffected individuals have evidence of more widespread cortical disease leading to

Answer 13

frontotemporal dementia

Question 14

spinal and bulbar msuclar atrophy also known as kennedy disease is?

Answer 14

an X linked polyglutamine expansion with distal limb amytrophy and bulbar signs