JNNP: Mutations in RNF170 lead to resonant co-dysfunction neuropathy in the foretrial reflex disorder.

Sensory neuropathy or neurotic disease is an peripheral neuropathy.
primary and selective damage to the back root nerve section leads to neuropathic mutations in sensory neurons.
The range of identification and diagnosis of sensory neurosurgery is very narrow, and recently, the amplification of the double allied gene AAGGG in the replication factor compound sub-base 1 has been identified as the main cause of sensory co-effect disorder neuropathy, usually accompanied by cerebral and foretrial suffering (CANVAS).
, however, a significant proportion of patients with sensory neurosystosis are still genetically undiagnosed.
case was a 57-year-old woman who became ill at the age of 47 and had poor balance, followed by abnormal sensations in her hands and feet.
57-year-old was examined for neurology and had a history of rheumatoid fever and gastroesoesia receding.
her father and grandmother both developed clinical symptoms of disconscious gait at the age of 60.
cases had no sound-building disorder and eye jumps.
cases catch eye movement normally.
pulsed pendulum experiment showed impaired double-sided foretrial eye reflexes.
cranial nerve examination is not obvious.
muscle size, tone and strength are normal.
tendon reflexes in the upper extremities and disappear in the lower extremities, Babinski was negative.
the needles on the elbows and buttocks are reduced.
vibration of the palm knuckle joint and the upper armpage is reduced.
the upper limb position is normal, the lower limb bends to the knee.
of all limbs has changed, but the situation in the lower extremities is even worse.
can also be observed in the united States.
Neurotransciductivity Study (NCS) showed a lack of sensory motion levels.
motor nerve conduction is normal.
the brain MRI examination is normal, especially without brain atrophy.
the cervical MRI shows a decrease in the volume of the rear column and an increase in the T2 signal.
forear test showed that the two-sided VOR gain was impaired during the video head pulse test.
note that the VOR test only had a critical change when it was conducted three years ago.
autonomous testing is within the normal range.
screening for autoimmune, tumor, toxicity and metabolic causes was negative.
the genetic testing of RFC1 dilation due to sensory neuropathy and non-reflectiveness in the forebears, the results were negative (AAAAG) 11/(AAAAG)exp).
, we performed a focused exon sequence determination in III-3 and found a c.595C-Tp.Arg199Cys variant in RNF170.
Sanger sequencing confirmed the separation of the III-1 mutation from the disease.
there are no other pathogenic variants in genes associated with neuropathy or co-dysfunction.
this may be the cause of the family's normal chromosomal explicit genetic sensory disorder neuropathy.
conclusion: Sensory neurons in the spinal cord, cranial nerves, and Scarpa nerve sections are generally sensitive to the neurodegenerative processes on which this ever-expanding genetic sensory disorder is based.
In contrast to the recessive RFC1 of the normal chromosome, there is no cesteal injury, cough, or rib reflexes in RNF170-related syndrome, inherited by the normal chromosomal explicit inheritance, and fortrial reflexes can only be observed at a later stage of the disease.
mutation of the double allele in RNF170 causes recessive hereditary spastic palsy (HSP) of the normal chromosome.
However, both clinical esoterics mainly involve upper motor neurons and back-root nerve-section sensory neurons, and involve pathogenic mechanisms, and the loss of function and toxicity between RNF170 HSP and normal chromosomal explicit sensory disorders are different.
recommends considering RNF170 in diagnostic tests in patients with sensory resonance disorder neuropathy and RFC1-negative CANVAS-like patients, especially in patients with a family history.
Cortese A, Callegari I, Curr?R, et al Mutation in RNF170 genes sensory ataxic neuropathy with vestibular areflexia: a CANVAS mimic Journal of Neurology, Neurosurgery and Psysy Publiced Online First: 17 September 2020. doi: 10.1136/jnnp-2020-323719MedSci Original Source: MedSci Original Copyright Notice: All text, images and audio and video materials on this website that indicate "Source: Met Medical" or "Source: MedSci Original" are owned by Mets Medicine and are not authorized and may not be reproduced by any media, website or individual. The authorizing reprint must indicate "Source: Metz Medicine".
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