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Spinocerebellar ataxia type 17 in Indian patients: two rare cases of homozygous expansions.
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We
screened
a
cohort
of
181
patients
with
features
of
primary
progressive
ataxia
and
chorea
for
spinocerebellar
ataxias
17
(
SCA
17
)
mutation
after
excluding
other
known
SCAs
,
Huntington
's
disease
(
HD
)
,
dentatorubral-pallidoluysian
atrophy
(
DRPLA
)
,
and
non-genetic
causes
.
This
study
included
patients
with
known
family
history
of
SCA
,
those
with
sporadic
onset
and
cases
of
uncertain
family
history
.
Two
unrelated
patients
with
Huntington
's
disease-like
phenotype
and
cerebellar
signs
are
described
with
homozygous
expansions
of
47
and
48
CAG
/
CAA
repeats
.
A
family
member
with
early
signs
of
ataxia
was
found
to
carry
37
and
48
repeats
.
There
were
fewer
CAA
interruptions
in
the
repeat
sequences
of
patients
than
in
the
controls
.
The
normal
repeat
range
in
controls
was
21
-
42
,
with
91
%
of
the
alleles
located
between
33
and
39
repeats
.
This
is
the
first
report
of
rare
homozygous
SCA
17
mutation
in
Indian
patients
presenting
with
HD-like
phenotype
.
