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-41 ' :

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-( )
( ) (
) .(MS, acute disseminated encephalomyelitis = ADEM
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'.
- - .
.
MRI- - .
-Pelizaeus merzbacher disease
, .
myelin basic protein .
.
ProteoLipid Protein (PLP)- .
- . .
MRI- )-(
.
" ,
) proteolipid protein- myelin-
-basic protein (.
:
- X.
connatal ) nystagmus
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Xq22- .20- 1989-
. -
) -gain of function
( . " .
splice sites : DM20-
assembly- )
.(PLP PLP DM20 -
connatal DM20- .
:
MRI- - ) -
-( ) (.
) :(T2
) ( . sulci- )
( . -.
evoked potential )(EMG, nerve conduction
) ( ) PMP CMT-
' (.


.X linked spastic paraplegia - spastic
paraparesia ) (pure
) ( -complicated
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( . ) PLP
( )
( . .
) (
.
Pelizaeus merzbacher like PLP
PLP-.

.
) -
( .
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.

,
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.
:Metachromatic leukodystrophy .
.
.aryl sulphatase A
"
.
:
LP- ) 100 (20 .
" ) ( .
MRI- - :
U .
MRI- , U )( .
.
:
) (infantile " .5

.
) (.
20-30
) (rigidity .
pseudoaryl sulphatase A deficiency pseudoaryl sulphatase A
aryl sulphatase A ) (.

pseudoaryl sulphatase A 15%


.
) compound heterozygotes pseudoaryl sulphatase A
) aryl sulphatase A .MRI-
:
:
, , .
- - clasp
.knife .
- Rigidity - )- cogwheel
(.

-
-Torsion spasm
) (megacolon .abdominal distention ,

, .
-Choreoathetosis
- )
- (.
.Disartria
- -Tay-sacs disease -
- GM2 ) hexosaminidase A-
B sandoff
.(hepatosplenomegaly
.
" ".
.
:
) hyperacusis ( , )
, ( . ) , ( ,
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retina) carry red spot (
. .
) (.
GM2- , ,' , )
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.
,
, , ,ataxia ,
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.carry red spot
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ataxia MRI- )
( . .

) ( . zaveska
.
-canavan
. 10- .
,
. N actyl aspartate
. N asparto acylase
) N actyl aspartate (NAA " )
.(MR spectroscopy- NAA- -
) spongyform leukodystrophy (.
) metacromatic-
leukodistrophy ( .
) (infantile 3-4 )
( . 6 - ) ( ,
. 3
.
:
,
) - ( , - ,
, , .
? :

: , ,nystagmus , ,
: chorioretinopathy , .
: , ,.
: ) rhizomelia (

:
-assembly
.1
. Zellwegers syndrome, neonatal :
adrenoleukodystrophy, infantile Refsum
X-linked adrenoleukodystrophy, pseudo- :
.2
Zellwegers syndrome
hyperpipecolic academia :
.3
.assembly
Zellwegers syndrome :cerebro-hepato-renal
. : , ,,
, , ,
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, , . .

: ,phytanic .pipecolic acid-


.
, ) (.
, .
neonatal adrenoleukodystrophy , infantile Refsum , .
20 assembly-
. .
- - -
) (
. 20- .
:X-linked adrenoleukodystrophy
x-linked recessive .3-10
) ADHD
'
( , .
: , , , , )
( .
) (isolated X linked
-adrenomyeloneuropathy 15-33 .
,spastic paraparesis- .
, ' )(testicular
.

.
) 24-30( .
C26
.
) ALDP- (ALD
ATP )lignoceroyl-CoA
.(synthetase
" " - ,oleic
.
, - )
(.
,
) IF (.
, .

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