Familial Episodic Pain Syndrome Type 1
Most patients also show various interictal nystagmus, such as gaze-evoked nystagmus (GEN), rebound nystagmus, or primary position downbeat nystagmus.[e-jmd.org]
[…] in TRPA1 gene is found to be linked to the syndrome.[indianjpain.org]
Candidate gene sequencing identified a point mutation (N855S) in the S4 transmembrane segment of TRPA1, a key sensor for environmental irritants.[ncbi.nlm.nih.gov]
Spinocerebellar Ataxia Type 6
Initial examination disclosed a central type of positional nystagmus (conjugate downbeat nystagmus that did not fatigue with repeated positioning).[jnnp.bmj.com]
About a year later, she noticed mild interictal imbalance.[jnnp.bmj.com]
Missing:
Mutation in the TRPA1 Gene
Acute Cerebellar Ataxia
. ; EA2 with interictal nystagmus , is long-lasting (hours) associated with attacks of vertigo, diffuse weakness, slurred speech, dystonia, seizures, truncal and limb ataxia[neuroweb.us]
[…] and downbeat nystagmus , often associated with nausea, vomiting and headache (migraine, often hemiplegic migraine).[neuroweb.us]
Missing:
Mutation in the TRPA1 Gene
Alcoholic Cerebellar Degeneration
. ; EA2 with interictal nystagmus , is long-lasting (hours) associated with attacks of vertigo, diffuse weakness, slurred speech, dystonia, seizures, truncal and limb ataxia[neuroweb.us]
[…] and downbeat nystagmus, often associated with nausea, vomiting and headache (migraine, often hemiplegic migraine).[neuroweb.us]
Missing:
Mutation in the TRPA1 Gene
Episodic Ataxia
According to Baloh and others (1997), EA2 is characterized by a progressive ataxia with interictal rebound nystagmus evoked by gaze, as well as downbeating nystagmus.[dizziness-and-balance.com]
Initial examination disclosed a central type of positional nystagmus (conjugate downbeat nystagmus that did not fatigue with repeated positioning).[jnnp.bmj.com]
About a year later, she noticed mild interictal imbalance.[jnnp.bmj.com]
Missing:
Mutation in the TRPA1 Gene
Spastic Ataxia with Congenital Miosis
Interictal examination showed spontaneous downbeat and gaze-evoked nystagmus and mild dysarthria and truncal ataxia.[findzebra.com]
, episodic; Vertigo; Myotonia; Dysarthria; Migraine headache; Weakness; Paresthesias; Interictal downbeat nystagmus ; Interictal vestibular dysfunction; Interictal dystonia[findzebra.com]
; Gaze-evoked nystagmus ; Interictal downbeat nystagmus ; Ocular abnormalities often persist between attacks NEUROLOGIC: [Central nervous system]; Ataxia, episodic; Unsteadiness[findzebra.com]
Missing:
Mutation in the TRPA1 Gene
Primary Erythromelalgia
The syndrome is caused by an autosomal-dominant mutation in the gene for TRPA1.[pn.bmj.com]
[…] cation channel selectively expressed by a sub-population of nociceptors, and can be activated both by endogenous ligands and extreme cold and environmental irritants. 49 The mutation[pn.bmj.com]
Missing:
Interictal Downbeat Nystagmus
Spinocerebellar Ataxia Type 4
Initial examination disclosed a central type of positional nystagmus (conjugate downbeat nystagmus that did not fatigue with repeated positioning).[jnnp.bmj.com]
About a year later, she noticed mild interictal imbalance.[jnnp.bmj.com]
Missing:
Mutation in the TRPA1 Gene
Autosomal Recessive Spinocerebellar Ataxia 8
According to Baloh and others (1997), EA2 is characterized by a progressive ataxia with interictal rebound nystagmus evoked by gaze, as well as downbeating nystagmus.[tchain.com]
EA1 may begin in early childhood with attacks of ataxia lasting minutes and with interictal myokymia.[tchain.com]
Missing:
Mutation in the TRPA1 Gene
Adult-Onset Autosomal Recessive Cerebellar Ataxia
. ; EA2 with interictal nystagmus , is long-lasting (hours) associated with attacks of vertigo, diffuse weakness, slurred speech, dystonia, seizures, truncal and limb ataxia[neuroweb.us]
[…] and downbeat nystagmus, often associated with nausea, vomiting and headache (migraine, often hemiplegic migraine).[neuroweb.us]
Missing:
Mutation in the TRPA1 Gene