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775 Possible Causes for Disturbance of Coordination, Interictal Downbeat Nystagmus, Mutation in the SYNE1 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] Mutations in the SYNE1 gene cause ARCA1 .[ghr.nlm.nih.gov] The result is a lack of coordination and balance, or disturbance in their gait.[disabled-world.com]

  • 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] […] cause of autosomal recessive cerebellar ataxia. [3] Cause [ edit ] ARCA1 is caused by the mutated SYNE1 gene that is vital for the synthesis of Syne-1 protein in the Purkinje[en.wikipedia.org] The result is a lack of coordination and balance, or disturbance in their gait.[disabled-world.com]

  • Early-Onset 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] […] in SYNE1 gene in a Saudi family, Journal of the Neurological Sciences, 372, (97), (2017).[doi.org] The result is a lack of coordination and balance, or disturbance in their gait.[disabled-world.com]

  • 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] Ataxia is characterized by disturbances in the voluntary coordination of posture and movement.[healio.com] Initial examination disclosed a central type of positional nystagmus (conjugate downbeat nystagmus that did not fatigue with repeated positioning).[jnnp.bmj.com]

    Missing: Mutation in the SYNE1 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] It is the sudden onset of a disturbance in coordination. The cerebellum is the part of the brain that plays an important role in balance and coordination.[cookchildrens.org] […] and downbeat nystagmus , often associated with nausea, vomiting and headache (migraine, often hemiplegic migraine).[neuroweb.us]

    Missing: Mutation in the SYNE1 Gene
  • Autosomal Recessive Spinocerebellar Ataxia

    Mutations in the SYNE1 gene cause ARCA1 .[ghr.nlm.nih.gov] The main symptoms include gait and balance disturbances, lack of limb coordination, and speech disturbances.[icd9data.com] The result is a lack of coordination and balance, or disturbance in their gait.[disabled-world.com]

    Missing: Interictal Downbeat Nystagmus
  • Cerebellar Ataxia

    A mutation in the synaptic nuclear envelope protein 1 (SYNE1) gene that is located on chromosome 6p25 results in premature termination of the protein.[ncbi.nlm.nih.gov] It is the sudden onset of a disturbance in coordination. The cerebellum is the part of the brain that plays an important role in balance and coordination.[cookchildrens.org]

    Missing: Interictal Downbeat Nystagmus
  • Autosomal Recessive Spinocerebellar Ataxia Type 17

    The movement problems are slowly progressive, often resulting in the need for a cane, walker, or wheelchair. [1] ARCA1 ARCA1 is caused by the mutated SYNE1 gene that is vital[ipfs.io] The result is a lack of coordination and balance, or disturbance in their gait.[disabled-world.com] SYNE1 is a large gene of 147 exons and this makes mutation screening by traditional methods expensive and complicated.[wjgnet.com]

    Missing: Interictal Downbeat Nystagmus
  • 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] […] ataxia of gait, and truncal instability, with generally preserved coordination of the upper extremities.[ncbi.nlm.nih.gov] […] and downbeat nystagmus, often associated with nausea, vomiting and headache (migraine, often hemiplegic migraine).[neuroweb.us]

    Missing: Mutation in the SYNE1 Gene
  • Autosomal Dominant Spastic Paraplegia Type 8

    This form of the CMD is caused by mutations of the SYNE1 gene. ADDITIONAL RARE FORMS OF CMDS WITH OR WITHOUT A KNOWN GENETIC DEFECT.[rarediseases.org] (epilepsy), muscle atrophy, disturbance of the nerves in the arms and legs (neuropathy), and disturbance cognitive ability (intellectual impairment and dementia).[rarediseases.org] Other genetic types of HSP tend to be associated with additional symptoms (“complicated HSP”) including difficulty with coordination (“ataxia”), impaired vision, seizures[rarediseases.org]

    Missing: Interictal Downbeat Nystagmus