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380 Possible Causes for Gaze-Evoked Nystagmus, Mutation in the TMEM240 Gene

  • Cognitive Impairment with or without Cerebellar Ataxia

    Features include bilateral esophoria, strabismatic amblyopia, unsustained gaze evoked nystagmus on horizontal gaze, ataxic gait, dysmetria in the upper limbs and dysarthria[malacards.org] The gene, TMEM240, has various mutations in eight SCA families.[pediatricneurologybriefs.com] Her physical examination revealed slow saccades with bilateral gaze-evoked nystagmus, dysphagia and prominent limb ataxia without pyramidal or extrapyramidal signs.[journals.plos.org]

  • Central Positional Vertigo

    GAZE EVOKED NYSTAGMUS Timothy C.[dizziness-and-balance.com] Gaze-evoked nystagmus Gaze-evoked nystagmus is produced by the attempted maintenance of an extreme eye position. It is the most common form of nystagmus.[emedicine.medscape.com] Table 4: Characteristics of gaze-evoked nystagmus of central origin.[asha.org]

    Missing: Mutation in the TMEM240 Gene
  • Spinocerebellar Ataxia Type 30

    […] areflexia (absence of neurologic reflexes ) Cuba CAG repeat, 12q SCA3 [10] (MJD) ( ATXN3 ) 4th decade (10–70) 10 years (1–20) Also called Machado-Joseph disease (MJD) [11] Gaze-evoked[en.wikipedia.org] Her physical examination revealed slow saccades with bilateral gaze-evoked nystagmus, dysphagia and prominent limb ataxia without pyramidal or extrapyramidal signs.[journals.plos.org] evoked occular nystagmus Dysmetric saccades Pyramidal signs Mild cognitive dysfunction Spinocerebellar ataxia 17 See the list below: Clinical features Progressive ataxia[emedicine.medscape.com]

    Missing: Mutation in the TMEM240 Gene
  • Nystagmus

    Gaze-evoked nystagmus Gaze-evoked nystagmus is produced by the attempted maintenance of an extreme eye position. It is the most common form of nystagmus.[emedicine.medscape.com] When this is repeated, a gaze-evoked or gaze-paretic nystagmus results.[emedicine.medscape.com] Gaze-evoked nystagmus often is encountered in healthy patients; in which case, it is called end-point nystagmus.[emedicine.medscape.com]

    Missing: Mutation in the TMEM240 Gene
  • Spinocerebellar Ataxia Type 6

    The proband presented with periodic alternating nystagmus (PAN), and her 2 brothers had rebound nystagmus and gaze-evoked nystagmus.[ncbi.nlm.nih.gov] Two had a low-amplitude horizontal gaze-evoked nystagmus, 1 of whom had a significantly decreased eye velocity for upward saccades and an abnormal frequency of square-wave[ncbi.nlm.nih.gov] Combined downbeat and horizontal gaze-evoked nystagmus ("side-pocket") was the most common form, occurring most commonly in supine and head-hanging positions, and following[ncbi.nlm.nih.gov]

    Missing: Mutation in the TMEM240 Gene
  • Episodic Ataxia

    Interictal oculomotor examination revealed a gaze evoked nystagmus and central oculomotor signs. Two probands had a history of strabismus.[ncbi.nlm.nih.gov] Two years later, interictal neurological examination results disclosed a gaze-evoked nystagmus and a mild statokinetic cerebellar ataxia.[doi.org] At this time, a neurological investigation showed gaze evoked nystagmus and upward gaze palsy, though attacks of ataxia had neither been reported by the patient nor noticed[jnnp.bmj.com]

    Missing: Mutation in the TMEM240 Gene
  • Helsmoortel-van der Aa Syndrome

    […] palsy Abnormality of the eye Intellectual disability, mild Pontocerebellar atrophy Gaze-evoked horizontal nystagmus Generalized limb muscle atrophy Hyperactive deep tendon[mendelian.co] The gene, TMEM240, has various mutations in eight SCA families.[pediatricneurologybriefs.com] Tendon reflexes: Brisk in legs; Clonus Plantar responses: Extensor Course: Progressive & Disabling in 2nd & 3rd decade in some patients Cerebellar Spastic-Ataxic gait EOM: Gaze-evoked[neuromuscular.wustl.edu]

  • Autosomal Recessive Spinocerebellar Ataxia 8

    Findings on examination include spastic and ataxic dysarthria, gaze-evoked nystagmus, limb and gait ataxia, limb spasticity, and diminished vibratory sensation.[ataxia.uchicago.edu] Clinically they have a coarse gaze-evoked nystagmus, downbeat nystagmus on lateral gaze, and poor visual suppression (Gomez et al, 1997).[tchain.com] […] areflexia (absence of neurologic reflexes ) Cuba CAG repeat, 12q SCA3 [4] (MJD) ( ATXN3 ) 4th decade (10-70) 10 years (1-20) Also called Machado-Joseph disease (MJD) [5] Gaze-evoked[psychology.wikia.com]

    Missing: Mutation in the TMEM240 Gene
  • Autosomal Dominant Mental Retardation Type 21

    Saccadic smooth pursuit Nonprogressive cerebellar ataxia Arachnodactyly Pachygyria Abnormality of vision Hypoplasia of the brainstem Toe walking Cortical gyral simplification Gaze-evoked[mendelian.co] The gene, TMEM240, has various mutations in eight SCA families.[pediatricneurologybriefs.com] nystagmus Proximal muscle weakness Retinopathy Muscular hypotonia of the trunk Stroke Lactic acidosis Increased serum lactate Gynecomastia EMG abnormality Exercise intolerance[mendelian.co]

  • Autosomal Recessive Spinocerebellar Ataxia 18

    Although gaze-evoked nystagmus is reportedly present in more than 70% of AOA1 cases, 2 it has limited diagnostic value since gaze-evoked nystagmus in all directions occurs[synapse.koreamed.org] Neurological examination showed bilateral gaze-evoked horizontal and vertical nystagmus and dysarthria.[scielo.br] 3/Machado-Joseph: Gaze-evoked nystagmus; Prominent spasticity or neuropathy •SCA 4: Cerebellar syndrome; Sensory neuropathy •SCA 5: Pure cerebellar syndrome •SCA 6: Pure[slideshare.net]

    Missing: Mutation in the TMEM240 Gene

Further symptoms