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23 Possible Causes for Interictal Downbeat Nystagmus, Mutation in the TRPA1 Gene

  • 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

Further symptoms