Term
| FXN, AR (autosomal recessive), no anticipation |
|
Definition
|
|
Term
Combination of spinocerebellar
degeneration and loss of proprioception
(Romberg sign), progressive ataxia of
gait and limbs, muscle weakness,
scoliosis, hypertrophic cardiomyopathy,
Age of onset before age 25 years. |
|
Definition
|
|
Term
Frataxin protein
(inner mitochondrial protein
required for iron‐sulfur
protein biogenesis. Frataxin
deficiency leads to reduced
mitochondrial function,
increased in intramitochondrial
iron, deficient |
|
Definition
|
|
Term
GAA triplet‐repeat expansion in intron 1 of FXN in 98% of cases
Premutation 34‐60 repeats
Disease expansion (60‐1700
repeats) |
|
Definition
|
|
Term
Nucleotide repeats include
CAG trinucleotide repeats in
exon (polyglutamine tract)
and larger repeat expansions
as well as non‐repeat
mutations |
|
Definition
|
|
Term
Slow progressive incordination of gait
associated with poor ccrdination of
hands, speech and eye movements.
Frequent atrophy of the cerebellum.
Neuronal intranuclear inclusions can be
found. |
|
Definition
|
|
Term
Various genetic loci
(SCA 1 to SCA 28)
AD (anticipation is
observed in the SCA with
repeat expansion) |
|
Definition
|
|
Term
Fragile X mental
retardation 1 protein |
|
Definition
|
|
Term
CGG trinucleotide repeats in
5'UTR of FMR1 gene.
6‐55 repeats, normal
55‐200 repeats,premutation
> 200 repeats full mutation
leading to methylation and
repression of promoter's
chromatin
Loss of protein function |
|
Definition
|
|
Term
Premutation leads to FXTAS in older
males and POF in females (RNA gain of
function)
Full mutation result in loss of FRM1
protein (promoter
methylation/decreased expression)
Mental retardation, long face, large ears,
flat feet, joint laxity, delayed speech,
behavior problem, macroorchidism
(large testes) and strabismus. |
|
Definition
|
|
Term
FRM1 on X‐chromosome,
X‐linked
Repeat expansion during
female meiosis i.e.
maternal transmission of
full mutation |
|
Definition
|
|
Term
CGG trinucleotide repeats in
5'UTR of FMR1 gene. FXTAS
observed in carriers of
premutation (55‐200
repeats). Repeats soak up
proteins involved in mRNA
transport,thus interfering
with mRNA metabolism. |
|
Definition
Fragile X-associated
tremor/ataxia syndrome
(FXTAS) |
|
|
Term
Late onset progressive cerebellar ataxia
and intention tremor, short term
memory loss, difficulty with
handwritting or using eating
utensils,dementia. Higher risk for males
than female with premutation |
|
Definition
Fragile X-associated
tremor/ataxia syndrome
(FXTAS) |
|
|
Term
|
Definition
|
|
Term
|
Definition
|
|
Term
FMR1, Fragile X mental
retardation 1 protein
X‐linked dominant |
|
Definition
Fragile X-associated
tremor/ataxia syndrome
(FXTAS) |
|
|
Term
|
Definition
|
|
Term
| Zinc Finger Protein 9 (ZNF9) |
|
Definition
Myotonic dystrophy DM2
protein |
|
|
Term
CTG trinucleotide repeats in
3'UTR of DMPK gene
RNA gain of function
pathogenic mechanism
AD (repeat expansion
during maternal meiosis) |
|
Definition
|
|
Term
CCTG repeats in 3'UTR of
ZNF9 gene
RNA gain of function
pathogenic mechanism
AD (repeat expansion
during maternal meiosis) |
|
Definition
|
|
Term
Multisystem disorder( muscle weakness,
cardiomyopathy, conduction defects,
balding, testicular atrophy and cataract)
(adult, chilhood and congenital
onset) |
|
Definition
|
|
Term
Multisystem disorder( muscle weakness,
cardiomyopathy, conduction defects,
balding, testicular atrophy and cataract)
(adult onset) |
|
Definition
|
|
Term
CAG trinucleotide repeats in
exon 1 of HD gene
10‐35 repeats, normal
25‐121 repeats, diseased
>70 repeats leads to juvenile
onset
Gain of protein function
(polyglutamine repeats
leading to intranuclear
inclusions) |
|
Definition
|
|
Term
HD gene (IT15)
Huntingtin protein
AD (repeat expansion
during spermatogenesis) |
|
Definition
|
|
Term
Uncontrollable movements (chorea),
progressive neurodegeneration (caudate
and putamen), loss of GABA‐ergic and
cholinergic neurons |
|
Definition
|
|
