GOSR2-related progressive myoclonus ataxia, also known as Progressive myoclonic epilepsy type 6 is a rare genetic type of progressive myoclonus ataxia which is characterized by progressive
myoclonic epilepsy
Myoclonic epilepsy refers to a family of epilepsies that present with myoclonus. It starts in both sides of the body at once, and last for more than a second or two. When myoclonic jerks are occasionally associated with abnormal brain wave activit ...
with an early onset which is associated with generalized
tonic-clonic seizures,
petit mal seizure
Absence seizures are one of several kinds of generalized seizures. These seizures are sometimes referred to as petit mal seizures (from the French for "little illness", a term dated in the late 18th century). Absence seizures are characterized by ...
s, and drop attacks, variable degrees of
scoliosis,
areflexia
Hyporeflexia is the reduction or absence of normal bodily reflexes (areflexia). It can be detected through the use of a reflex hammer and is the opposite of hyperreflexia.
Hyporeflexia is generally associated with a deficit in the lower motor neu ...
,
high levels of creatine kinase serum, and late-onset cognitive decline.
According to OMIM, only 12 cases have been described in medical literature.
It is caused by
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
loss of function
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Viral genomes contain either DNA or RNA. Mutations result from errors during DNA or viral replication, mitos ...
mutations in the (as the name implies)
GOSR2
Golgi SNAP receptor complex member 2 is a protein that in humans is encoded by the ''GOSR2'' gene.
Function
This gene encodes a trafficking membrane protein which transports proteins among the medial- and trans-Golgi compartments. Due to its c ...
gene, in
chromosome 17
Chromosome 17 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 17 spans more than 83 million base pairs (the building material of DNA) and represents between 2.5 and 3% of the total D ...
.
[
]
References
{{reflist
Genetic diseases and disorders