Presymptomatic diagnosis: Metachromatic eukodystrophy or pseudo arylsulphatase a deficiency?

1982 ◽  
Vol 5 (4) ◽  
pp. 215-217 ◽  
Author(s):  
H. Kihara ◽  
A. L. Fluharty ◽  
W. G. Ng ◽  
W. Leider
Keyword(s):  
Arylsulphatase A ◽  
Presymptomatic Diagnosis

Ultrasonography and nephrotomography in the presymptomatic diagnosis of dominantly inherited (adult-onset) polycystic kidney disease.

Radiology ◽  
1980 ◽  
Vol 135 (2) ◽  
pp. 423-427 ◽  
Author(s):  
A T Rosenfield ◽  
M H Lipson ◽  
B Wolf ◽  
K J Taylor ◽  
N S Rosenfield ◽  
...  
Keyword(s):  
Kidney Disease ◽  
Polycystic Kidney Disease ◽  
Adult Onset ◽  
Polycystic Kidney ◽  
Presymptomatic Diagnosis

ENZYMIC CHANGES IN THE CERVIX OF THE RAT AND HAMSTER DURING THE OESTROUS CYCLE AND THE EFFECT OF STEROIDS

1977 ◽  
Vol 72 (2) ◽  
pp. 153-161 ◽  
Author(s):  
ELIZABETH ZACHARIAH ◽  
N. R. MOUDGAL
Keyword(s):  
Alkaline Phosphatase ◽  
Specific Activity ◽  
Protein Biosynthesis ◽  
Hydrolytic Enzymes ◽  
Maximal Activity ◽  
Inhibitory Effect ◽  
Oestrous Cycle ◽  
Single Subcutaneous Injection ◽  
Arylsulphatase A ◽  
Phosphatase Alkaline

SUMMARY Changes in four hydrolytic enzymes, namely acid phosphatase, alkaline phosphatase, arylsulphatase A and B, of the cervix of the rat and hamster have been studied during the 4-day oestrous cycle. All four enzymes showed maximal activity on the day of oestrus and least activity on day 2 of dioestrus. All the enzymes showed significant reduction of activity after ovariectomy, arylsulphatase A and B showing the earliest changes in specific activity. A single subcutaneous injection of 0·02 μg oestradiol-17β/rat increased the specific activity of arylsulphatase A and B from the low ovariectomized level to that observed in control oestrous animals within 18 and 6 h respectively. A higher concentration of oestradiol-17β (2·0 μg) had an inhibitory effect. Progesterone was without effect on arylsulphatase B activity, but when given (2·0 mg) with 0·02 μg oestradiol-17β, it inhibited the response to oestrogen. Cycloheximide prevented the rise in arylsulphatase B activity occurring after oestrogen injection, suggesting a regulation of cervical arylsulphatase B at the level of protein biosynthesis. These results suggest that arylsulphatase B activity may be induced by oestrogen in the cervix of the rat.

Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene

1994 ◽  
Vol 3 (1) ◽  
pp. 207-207 ◽  
Author(s):  
J. S. Harvey ◽  
W. F. Carey ◽  
P. V. Nelson ◽  
C. P. Morris
Keyword(s):  
Nonsense Mutation ◽  
Metachromatic Leukodystrophy ◽  
Arylsulphatase A

PRESYMPTOMATIC DIAGNOSIS OF HETEROZYGOSITY FOR FAMILIAL AMYLOIDOTIC POLYNEUROPATHY BY RECOMBINANT DNA TECHNIQUES

The Lancet ◽  
1985 ◽  
Vol 325 (8420) ◽  
pp. 100 ◽  
Author(s):  
H Sasaki ◽  
Y Sakaki ◽  
Y Takagi ◽  
K Sahashi ◽  
A Takahashi ◽  
...  
Keyword(s):  
Recombinant Dna ◽  
Familial Amyloidotic Polyneuropathy ◽  
Recombinant Dna Techniques ◽  
Presymptomatic Diagnosis

A Diagnostic Pointer to Adult Metachromatic Leucodystrophy

1980 ◽  
Vol 137 (2) ◽  
pp. 186-187 ◽  
Author(s):  
John A. O. Besson
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Autosomal Recessive ◽  
Demyelinating Disease ◽  
Initial Manifestation ◽  
The Central Nervous System ◽  
Metachromatic Leucodystrophy ◽  
Arylsulphatase A ◽  
Recessive Defect

Adult metachromatic leucodystrophy (MLD) is a rare demyelinating disease of the central nervous system caused by a genetic autosomal recessive defect and mediated through a deficiency in the enzyme arylsulphatase A (Peiffer, 1970). The initial manifestation may take the form of symptoms suggestive of schizophrenia or dementia (Sourander et al, 1962; Austin et al, 1968).

Genetic Testing in Presymptomatic Diagnosis of Multiple Endocrine Neoplasia

1997 ◽  
Vol 47 (4-6) ◽  
pp. 199-210 ◽  
Author(s):  
A. Calender ◽  
S. Giraud ◽  
I. Schuffenecker ◽  
GM. Lenoir ◽  
P. Gaudray ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Multiple Endocrine Neoplasia ◽  
Endocrine Neoplasia ◽  
Presymptomatic Diagnosis
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