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Neurology Recert > Gen neuro > Flashcards

Gen neuro Flashcards

1
Q

DMD cog outcomes

A 
Avg IQ 85
30% intellectual disability
Delayed Lang dev common
ADHD 10-15%
ASD 3-6%
OCD 5%
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2
Q

VPA teratogenic

A

3 fold increased risk for autism if vpa given during pregnancy

Autism 3 fold
ASD 5 fold

Absolute risk <5%
Note thalidomide 50 fold increase
Tpx increased oral clefts 2-3 Times risk compared to other AEDs

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3
Q

Tuberous sclerosis

A

TSC1 tSC2

Autism: TSC2, infantile spasms, esp if focus in temporal lobes

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4
Q 
Irritable
Cachetic
Infant
Strabismus
Bulbar dysfunction
Hypertonic
Hepatosplenomegaly
A 
Gaucher
Lysosomal storage disease
AR, deficiency of lysososomal
Glucocerebroaidase
1q21
200 mutations, no geneotype phenotype correlation

Neuronopathic stridor, strabismus, dysphagia
Opisthotonus
Fatal within first 2 years of life

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5
Q

Mu rhythm

A

Central rhythm
Alpha frequency
20% of adolescents
Blocked by touch movement of limbs thought of movement

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6
Q

Retinal hemorrhage’s

A 
Found in
Osteogenesis imperfecta
Glutauric aciduria type 1
Hemorrhagic disease of the newborn
Herman sky pudlakn syndrome -AR albinism and platelet abn
Homozygous protein c deficiency
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7
Q

FAS

A

Prenatal or post natal growth retardation
CNS dysfunction
At least 2 of: microcephaly, microopthalmia, short palpebral fissure or all three and hypoplastic philtrum and thin upper lip

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8
Q

Alternating hemiplegia of childhood

A

First symptoms abnormal eye movements in early infancy
Unilateral flaccid hemiplegia occurring independently on each side
Sometimes simultaneous involvement of both sides
Unilateral dystonia rather than weakness
All patients develop comorbid symptoms developmental delay, ataxia, epilepsy
Sleep relieves events
Flunarazine can be effective

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9
Q

Familial hemiplegic migraine

A

CACNA1A most common
Calcium channel gene

Other genes
ATP1A2
SCNA1

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10
Q

Vitamin d deficiency

A 
Neuropathy
Bowing of legs
Low serum calcium
Low phosphate
High alk phos

Rickets

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11
Q

Pompe disease

A 
Myotonia
Loss of motor milestones
Symmetric weakness body and face
Neuropathic and myopathic abnormalities
Cardiac hypertrophy
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12
Q

Neimann-pick disease

A 
Sea blue histiocytes
Types a,b,c
Lipids collect in the cells of the spleen, liver and brain 
Missing 
Acid Sphingomyelinase

Build up of sphingomyelin

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13
Q

EMG in GBS

A

Absent F responses 88%
Prolonged distal latency
Conduction block
Reduction in conduction velocity

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14
Q

Canavan

A

Microcephaly
Hypotonia
Head lag
After 3-5 months

High concentrations of
NAA N-acetyl aspartic acid in the urine

MRS elevates NAA 2.01 ppm

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15
Q

Irritability

Opisthotonus

A

Galactocerebrosidase
Krabbe
Peripheral and central

No reflexes, wm abn

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16
Q

Tethered cord

A 
Clumsy gait
Motor regression
Spinal dysgraphia 
Regression in bowel bladder control 
Scoliosis
Foot deformities
Non segmental sensory loss and pain in the back and lower extremities
Detrusor hyperreflexia
17
Q

Primary stabbing headaches

A

Ice pick headaches
Trigeminal autonomic cephalgias - hemiceania cicrania, chronic paroxysmal hemicrania

Indomethacin

18
Q 
Long face 
Square jaw
Floppy ears
Macro orchid Ian
Joint laxity
Autistic features
A

Fragile x
Trinucleotide repeat
CGG 50-230 copies
Females mild mental deficiency

Adulthood 55-200 CGG repeats 
Ataxia 
Tremor
Cognitive dysfunction in adulthood
Mimics Parkinsonism
19
Q

Microcephaly
Fat pads upper buttocks
Hepatomegaly
Central hypotonia

MRI volume loss, diffuse leukoencephalopathy pontocerebellar hypoplasia

A

Congenital disorder of glycosolation
Abnormal glycosolation N-linked oligosaccharide synthetic pathway
CDG1a

Hypoglycemia and protein losing eneteropathy

20
Q

Glossopharyngeal neuralgia

A

Triggered by chewing, swallowing, rotating head

Distribution of glossopharyngeal nerve
Due to elongated sylohyoid process that irritates or compresses the nerve. Calcified stylohyoid ligament
Decompression

21
Q

Nervus intermedia neuralgia

A

Middle ear, similar to trigeminal neuralgia

22
Q

Cerebral creative deficiency syndromes

A

Creatine metabolism

Guanidinoacetate methyltransferasen(GAMT) deficiency - AR

L-Argentine:glycine amidinotransferase (AGAT) deficiency -AR

SLC6A8 deficiency - creatine transporter defect, x linked

MR
Seizures
Behavioral disorders

Dx using urine for organic acids

Treat with oral creatine for first two no effect in transporter defect

23
Q

CMT

A 
Atonal - mitofuscun2 mutations
20% of cases
If normal check
MPZ protein gene
Gap junction binding protein (gJB1 Connexin 32)
24
Q

Limb girdle muscular dystrophy

A 
Weakness and wasting of the muscles in the arms and legs
Proximal shoulders, upper arms, pelvic area and thighs 
Worsen thru time
Waddling
Walking on balls of feet 
Scapular winging
Contractures
Cardiomyopathy
Types: 1, AD, type 1b LMNA gene

14 types at least -
Most are AR

25
Q

Dd autism low tone normal HC

A

The patient has Phelan-McDermid Syndrome- 22q13 deletion syndrome. Children with this
disorder can have mild dysmorphic features.
Durand et al. (2007) reported evidence showing that abnormal gene dosage of SHANK3 is
associated with severe cognitive deficits, including language and speech disorder and autism
spectrum disorder. They reported 3 families with autism spectrum disorder and unambiguous
alteration of 22q13 or SHANK3.
Mutations of RAI1 gene on chromosome 17 causes Smith-Magenis Syndrome (intellectual
disability, behavioral problems and sleep disturbance). Mutations of FOXG1 cause symptoms of an
Autism Spectrum Disorder, developmental delay, and microcephaly. Mutations of the PTEN cause
symptoms of an Autism Spectrum Disorder, marocephaly and harmatomas. Mutations of the ARX
gene cause X-linked mental retardation.

26
Q

Klein levin

A

Hypersomnia
Eeg slow background
Disinhibition
Compulsive overeating

27
Q

Enzyme replacement therapy

A 
nzyme replacement therapy (ERT) has been FDA approved for use in several Lysosomal Storage 
Disorders (LSDs) including Gaucher Types 1 and 3, Mucopolysaccharidosis Type 1 (Hurler, Hurler 
Schie Syndrome), Mucopolysaccharidosis Type 2 (Hunter Syndrome), Mucopolysaccharidosis 
Type 6 (Maroteaux-Lamy Syndrome), Fabry Disease and Pompe Disease. It involves replacement 
of the deficient enzyme by IV infusion of exogenous enzyme. It is recommended that it be used in 
LSDs without mental retardation because the exogenous enzyme does not cross the blood-brain 
barrier. ERT has proven to be effective in reducing many symptoms of LSD
28
Q

Angelman syndrome

A

15q11.2-q11.13

UBE3A

29
Q

Kernicterus

A

Hypotonia
Choreoathetosis
Lack of speech- hearing impairment
Increased T2 in GP

30
Q

Autism fda approved drugs for agitation/behaviors

A

Aripiprazole

Risperidal

31
Q

His parents describe that at times he will “freeze”, characterized by a general
cessation of movement in a fixed posture, during which time he appears awake, but is not
interactive or conversant. The patient also has a history of seizures

A

The history is consistent with recurrent episodes of catatonia-like episodes. Catatonia in individuals
with autism spectrum disorders has been reported to be associated with Disorders of Cerebral
Folate Metabolism, and in some cases can be ameliorated with the administration of folinic acid.

32
Q

Migrating abnormalities on Eeg, infantile onset, SE

A 
This patient has a clinical course and EEG correlate for Partial Migrating Seizures of Infancy 
(MPSI). Patients with this disorder usually present within the first 10 months of life with refractory 
focal migrating motor seizures, epileptic encephalopathy and loss of previously attained 
developmental milestones. The cause of MPSI has been attributed to a variety of genetic 
channelopathies including (but not limited to) mutations in the genes SCN1A, SCN1B, SLC25A22, 
and KCNT1. The latter gene encodes for the pore-forming alpha subunit of a sodium activated 
potassium channel which is highly expressed in neurons and cardiomyocytes. Patients with MPSI 
due to heterozygous mutations in the KCNT1 gene have all shown gain of function mutations 
resulting in constitutive activation of the channel. Treatment with quinidine has been successful in 
significantly reducing seizure burden in some patients with KCNT1 gain of function mutations but 
not necessarily with improving their developmental outcomes.
33
Q

Shaking episodes

A

has paroxysmal kinesiogenic
choreoathetosis. As such, a diagnostic trial of low dose carbamazepine( other anticonvulsants
have also been successfully used)is also a reasonable approach. Autosomal dominant familial
paroxysmal choreoathetosis has been linked in many families to mutations in the PRRT2 gene on
chromosome 16q11.2-q12.1. Inheritance is generally autosomal dominant with variable
penetrance

Neurology Recert (3 decks)

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