Miscellaneous Flashcards
(22 cards)
Huntingtons AOE
If from
Mother- 40-50 y
Father- <20 y + SEIZURES. (ANTICIPATION+)
Genetics Huntingtons
Chr 4 SHORT ARM
CAG repeats > 40
AD
2 successive generations affected
Larger the defect more severe / more earlier the symptoms
C/f huntingtons
CDCP
CHOREA
DEMENTIA
COGWHEEL RIGIDITY
PERSONALITY D/O
Memory not impaired until late
Brain and blood ix in HC
Atrophy of STRIATUM***
DA increased
AcH and GABA decreased
Rx HC
DA depletor- TETRABENZENE
Da antagonist- HALOPERIDOL
Westphal variant of HC is a ddx of which disease
PARKINSONS
Predisposing factors to WERNICKES ENCEPHALOPATHY
ALCOHOL
STARVATION- (Renal dialysis/ cancer / HIV / Hyper emesis)
Pathophysiology of WE
Thiamine (B1) def—Is a cofactor for
TRANSKETOLASE
PYRUVATE KINASE
aKG
Therefore—TCA cycle inhibited—glucose accumulation—NEUROTOXICITY
C/f of WE (GOA)
Global Confusion / Psychosis
Opthalmoplegia
(LR palsy/ Conjugate gaze palsy/ ptosis rare)
Ataxia
(Dt poly neuropathy and Cerebellar inv)
MRI Brain in WE
Acute- 3 & 4 Periventricular Petechial Hge
Chronic- Mamillary Body atrophy
Rx WE
Thiamine replacement
100mg iv x 14d
Recovery sequence of WE
OAG
Confusion may be persistent
Glu infusion—ppt Wernickes
KORSAKOFF PSYCHOSIS c/f, circuit name
Dementia + CONFABULATION
PAPEZ CIRCUIT**
Mamillary body (SMALL PETECH HGE**)
Anterior Nucleus of Thalamus— LESION+
Peri aqueductal Grey matter
NPH pressure range
150-200
N= 100-180
Cause of NPH
SAH
Meningitis
Cf NPH
G.U.D
Gait problems (MAGNETIC GAIT)
U. incontinence
Dementia (mild)
NO CORTICAL ATROPHY
Which nucleus is responsible for amnesia in Korsakoff syndrome
DORSOMEDIAL NUCLEUS OF THALAMUS
MILLER FISCHER TEST IS DONE IN
NPH
Remove 30ml csf—- improvement in Ataxia (1st to improve) and cognition??—-the do a VP SHUNT
Hallevorden spatz other name
PKAN (Pantothenate kinase assoc neuro degeneration
)
Inheritance of PKAN
AR
Pathology of PKAN
Fe accumulation in BASAL GANGLIA
GP
Substantia nigra
RED NUCLEI***
Cf of PKAN
Dementia
Cognitive impairment
Involuntary spasticity
