All individuals with variants in gene FGF14

89 entries on 1 page. Showing entries 1 - 89.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Variants     
Panel size     
Owner     
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 8 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 8 1 Yu Sun
00428078 FamPatII3 PubMed: Van Swieten 2003 2-generation family, 1 affected, unaffected non carrier parents M - Netherlands - - - - - SCA 30y-onset ataxia; wheelchair bound; aggressive outbursts; gaze-evoked nystagmus; unintelligible speech; tremor; moderate limb ataxia 1 14 Johan den Dunnen
00428079 FamPatII5 PubMed: Van Swieten 2003 brother M - Netherlands - - - - - SCA 34y-onset ataxia; wheelchair bound; treated for depression; no gaze-evoked nystagmus; unintelligible speech; tremor; moderate limb ataxia; MRI brain cerebellar atrophy 1 1 Johan den Dunnen
00428080 FamPatII7 PubMed: Van Swieten 2003 brother M - Netherlands - - - - - SCA 27y-onset ataxia; walking with cane; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; moderate limb ataxia; moderate gait ataxia; MRI brain cerebellar atrophy 1 1 Johan den Dunnen
00428081 FamPatII12 PubMed: Van Swieten 2003 sister F - Netherlands - - - - - SCA 40y-onset ataxia; impaired walking; no psychiatric episodes; no gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; moderate gait ataxia; CTbrain 60y-normal 1 1 Johan den Dunnen
00428082 FamPatII13 PubMed: Van Swieten 2003 brother M - Netherlands - - - - - SCA 30y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; gait ataxia 1 1 Johan den Dunnen
00428083 FamPatIII4 PubMed: Van Swieten 2003 daughter F - Netherlands - - - - - SCA 40y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; gait ataxia; MRI brain normal 1 1 Johan den Dunnen
00428084 FamPatIII5 PubMed: Van Swieten 2003 niece F - Netherlands - - - - - SCA 30y-onset ataxia; walking mild unsteadiness; aggressive outbursts; gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; gait ataxia 1 1 Johan den Dunnen
00428085 FamPatIII6 PubMed: Van Swieten 2003 niece F - Netherlands - - - - - SCA walking normal; aggressive outbursts; gaze-evoked nystagmus; dysarthria; no tremor; limb ataxia; no gait ataxia 1 1 Johan den Dunnen
00428086 FamPatIII7 PubMed: Van Swieten 2003 nephew M - Netherlands - - - - - SCA walking normal; aggressive outbursts; gaze-evoked nystagmus; dysarthria; tremor; no limb ataxia; gait ataxia; MRI brain normal 1 1 Johan den Dunnen
00428087 FamPatIII9 PubMed: Van Swieten 2003 niece F - Netherlands - - - - - SCA 28y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; limb ataxia; gait ataxia; MRI brain normal 1 1 Johan den Dunnen
00428088 FamPatIII11 PubMed: Van Swieten 2003 nephew M - Netherlands - - - - - SCA 37y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; tremor; no limb ataxia; gait ataxia; MRI brain normal 1 1 Johan den Dunnen
00428089 FamPatIII14 PubMed: Van Swieten 2003 niece F - Netherlands - - - - - SCA 40y-onset ataxia; walking mild unsteadiness; no psychiatric episodes; gaze-evoked nystagmus; dysarthria; no tremor; no limb ataxia; gait ataxia; MRI brain normal 1 1 Johan den Dunnen
00428090 FamPatIII16 PubMed: Van Swieten 2003 nephew M - Netherlands - - - - - SCA walking mild unsteadiness; aggressive outbursts; gaze-evoked nystagmus; no dysarthria; tremor; no limb ataxia; no gait ataxia 1 1 Johan den Dunnen
00428091 FamPatIV1 PubMed: Van Swieten 2003 - F - Netherlands - - - - - SCA walking normal; treated for depression; gaze-evoked nystagmus; no dysarthria; tremor; limb ataxia; gait ataxia; MRI brain normal 1 1 Johan den Dunnen
00428092 patient PubMed: Dalski 2005 2-generation family, 1 affected, likely affected father M no Germany - - - - - SCA see paper; ..., mild mental retardation (IQ 70), inborn strabismus, red–green color vision defect; <12y-motor development normal; 12y-slowly progressing gait disturbances, memory loss, depressive mood; 13y-truncalataxia, gait ataxia, small-amplitude tremor both hands, gaze-evoked nystagmus, pes cavus; mild sensory axonal neuropathy; MRI brain normal; father gait disturbances, memory loss, pes cavus, died of anaplastic astrocytoma 1 1 Johan den Dunnen
00428093 case PubMed: Dalski 2005 analysis 208 cases - - Germany - - - - - SCA - 1 1 Johan den Dunnen
00428094 control PubMed: Dalski 2005 analysis 208 controls - - Germany - - - - - Healthy/Control - 1 2 Johan den Dunnen
00428095 case PubMed: Dalski 2005 analysis 208 cases - - Germany - - - - - SCA - 1 3 Johan den Dunnen
00428096 control PubMed: Dalski 2005 analysis 208 controls - - Germany - - - - - Healthy/Control - 1 1 Johan den Dunnen
00428097 case PubMed: Dalski 2005 analysis 208 cases - - Germany - - - - - SCA - 1 2 Johan den Dunnen
00428098 case PubMed: Dalski 2005 analysis 208 cases - - Germany - - - - - SCA - 1 2 Johan den Dunnen
00428099 case PubMed: Dalski 2005 analysis 208 cases - - Germany - - - - - SCA - 1 8 Johan den Dunnen
00428100 control PubMed: Dalski 2005 analysis 208 controls - - Germany - - - - - Healthy/Control - 1 2 Johan den Dunnen
00428101 patient PubMed: Miura 2019 2-generation family, affected son/father M - Japan - - - - - SCA see paper; ..., spinocerebellar ataxia, graduated from junior high school; 47y-slowly progressive dysarthria/gait disturbance; pathological saccadic dysmetria, saccadic intrusions into smooth pursuit eye movements, dysarthria, limb/truncal ataxia; wide-based gait, did not require a walking stick; normal limb muscle strength; deep tendon reflexes normal/slightly reduced, pathological reflexes absent; mildly impaired vibration sense lower limbs; no urinary dysfunction; MRI brain cerebellar atrophy without brainstem involvement 1 2 Johan den Dunnen
00428102 FamPatII2 PubMed: Choquet 2015 3-generation family, affected mother/3 sons F - Canada France - - - - SCA migraine, rare episodes of vertigo/incoordination; treatment with acetazolamide attempted and discontinued due to adverse effects (limb numbness); neurological examination normal, sustained horizontal nystagmus 1 4 Johan den Dunnen
00428103 FamPatIII1 PubMed: Choquet 2015 son M - Canada France - - - - SCA see paper; ..., 26y-episodes incoordination, unsteady gait, vertical oscillopsy, dysarthria starting abruptly accompanied by headaches; paroxystic episodes of right upper limb dystonic postures; 29y-attacks ataxia/incoordination followed by progressive permanent cerebellar ataxia, some dysarthria/tremor, with episodes of aggravation; horizontal nystagmus, mild upper/lower extremity hypotonia, distal limb postural tremor, very mild dysarthria, dysmetria, dysdiadochokinesis, ataxia; MRI brain normal; EMG normal; EEG normal 1 1 Johan den Dunnen
00428104 FamPatII2 PubMed: Choquet 2015 son M - Canada France - - - - SCA milder form clinical picture older brother; attacks 1-4/week lasting 20 min, characterized by dysarthria, unsteady gait, diplopia thought triggered by fatigue or exercise; no association with headaches; upbeat/downbeat nystagmus 1 1 Johan den Dunnen
00428105 family PubMed: Misceo 2009 2-generation family, affected daughter/mother F - Norway - - - - - SCA see paper; ..., birth-psychomotor delay, microcephaly; 1y-cerebellar dysfunction, truncal unsteadiness, progressed to gait ataxia, axial tremor with titubation of head /neck, action/intention tremor, dysarthria; no nystagmus; open mouth, drooling 2 2 Johan den Dunnen
00428106 family PubMed: Misceo 2009 mother F - Norway - - - - - SCA see paper; ..., works as cleaner; child seizures; intellectual disability, special school for learning disabilities; became unsteady while standing with eyes closed; unable keep balance standing on one foot catching ball; sensory modalities normal; deep tendon reflexes slightly increased, plantar reflexes equivocal; high arched feet; EMG normal 2 1 Johan den Dunnen
00428107 patient PubMed: Shimojima 2012 2-generation family, 1 affected, unaffected non carrier parents M - Japan - - - - - ? see paper; ..., brith 40w, weight 3370 g (75th–90th centile), height 51 cm (75th–90th centile), OFC 32.5 cm (10th–25th centile); 8m-episodic attacks muscle atonus, upward turning both eyes triggered by intense crying (occurred several times a week) 2 1 Johan den Dunnen
00428108 family PubMed: Coebergh 2014 4-generation family, affected son/mother/grandmother M - Netherlands - - - - - SCA see paper; ..., mild ataxia, abnormal eye movements repeatedly deteriorated with fever, unable to sit/walk during fever episode 1 3 Johan den Dunnen
00428109 family PubMed: Coebergh 2014 mother M - Netherlands - - - - - SCA see paper; ..., abnormal eye movements, unable to perform tandem gait walking 1 1 Johan den Dunnen
00428110 family PubMed: Coebergh 2014 grandmother M - Netherlands - - - - - SCA see paper; ..., 49y-head tremor; 66y-postural hand tremor, mild cerebellar (especially gait) ataxia ; 2 sisters and mother eported to have similar problems 1 1 Johan den Dunnen
00428111 Pat32 PubMed: Choi 2017 - M - Korea - - - - - SCA episodic ataxia (hours); dizziness, headache; downbeat nystagmus 1 1 Johan den Dunnen
00428114 AA2807 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Australia - - - - - SCA cerebellar ataxia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features 2 1 Johan den Dunnen
00428115 AA2903 PubMed: Rafehi 2023, Journal: Rafehi 2023 - F - Australia - - - - - SCA cerebellar ataxia, unilateral vestibulopathy, autonomic nervous system and hyper-reflexia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); unilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270); MRI brain no atrophy; hyper-reflexia 2 1 Johan den Dunnen
00428116 AA2831 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Australia - - - - - SCA cerebellar ataxia; no upper limb ataxia (-HP:0001251); gait ataxia (HP:0002066); MRI brain anterior cerebellar atrophy; spasticity 2 1 Johan den Dunnen
00428117 AA2770 PubMed: Rafehi 2023, Journal: Rafehi 2023 - F - Australia - - - - - SCA cerebellar ataxia and cough; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); no hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain superior and posterior vermal, mild hemispheric atrophy; chronic cough 2 1 Johan den Dunnen
00428118 AA0441 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Australia - - - - - SCA cerebellar ataxia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); no hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features 2 1 Johan den Dunnen
00428119 AA2895 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Australia - - - - - SCA cerebellar ataxia and spasticity; no upper limb ataxia (-HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); MRI brain generalized cerebellar atrophy, principally vermis; lower limb hyper-reflexia, spasticity 2 1 Johan den Dunnen
00428120 AA2775 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Australia - - - - - SCA cerebellar ataxia, bilateral vestibulopathy, autonomic nervous system and hyper-reflexia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270); MRI brain anterior and posterior vermal, mild hemispheric atrophy; lower limb hyper-reflexia 2 1 Johan den Dunnen
00428121 AA2809 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Australia - - - - - SCA cerebellar ataxia, bilateral vestibulopathy, hyper-reflexia and parkinsonism; upper limb ataxia (HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270) on anti-hypertensive medication; MRI brain no atrophy; lower limb hyper-reflexia, parkinsonism 2 1 Johan den Dunnen
00428122 AA2845 PubMed: Rafehi 2023, Journal: Rafehi 2023 - F - Australia - - - - - SCA cerebellar ataxia; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); no hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features 2 1 Johan den Dunnen
00428123 AA2766 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Australia - - - - - SCA cerebellar ataxia, bilateral vestibulopathy, autonomic nervous system and cough; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; autonomic nervous system dysfunction (HP:0002270); MRI brain superior and posterior vermal, mild hemispheric atrophy; chronic cough 2 1 Johan den Dunnen
00428124 AA2908 PubMed: Rafehi 2023, Journal: Rafehi 2023 - F - Australia - - - - - SCA cerebellar ataxia, bilateral vestibulopathy and clinical autonomic nervous system; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; MRI brain no atrophy; clinical autonomic nervous system dysfunction 2 1 Johan den Dunnen
00428125 AA2933 PubMed: Rafehi 2023, Journal: Rafehi 2023 - F - Australia - - - - - SCA cerebellar ataxia; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); no hypofunction on video head impulse test; MRI brain no atrophy; no extracerebellar features 2 1 Johan den Dunnen
00428126 AA2926 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Australia - - - - - SCA cerebellar ataxia, bilateral vestibulopathy; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; MRI brain no atrophy; no extracerebellar features 2 1 Johan den Dunnen
00428127 L-18362 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia, bilateral vestibulopathy and spasticity; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain cerebellar atrophy, primarily, superior vermis; spasticity 2 1 Johan den Dunnen
00428128 L-17665 PubMed: Rafehi 2023, Journal: Rafehi 2023 - F - Germany - - - - - SCA cerebellar ataxia, bilateral vestibulopathy; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); no gait ataxia (-HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features 2 1 Johan den Dunnen
00428129 L-17672 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia; no upper limb ataxia (-HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); no hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain no atrophy; no extracerebellar features 2 1 Johan den Dunnen
00428130 L-18384 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia, bilateral vestibulopathy; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; no extracerebellar features 2 1 Johan den Dunnen
00428131 L-20363 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia, unilateral vestibulopathy; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no cerebellar dysarthria (-HP:0001260); unilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; no extracerebellar features 2 1 Johan den Dunnen
00428132 L-15166 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia, spasticity; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); cerebellar dysarthria (HP:0001260); MRI brain frontal atrophy; spasticity 2 1 Johan den Dunnen
00428133 L-15764 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia, bilateral vestibulopathy; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain moderate global atrophy, predominantly cerebellar; no extracerebellar features 2 1 Johan den Dunnen
00428134 L-14630 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia and clinical autonomic nervous system; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no truncal ataxia (-HP:0002078); no cerebellar dysarthria (-HP:0001260); MRI brain no atrophy; clinical autonomic nervous system dysfunction 2 1 Johan den Dunnen
00428135 L-10410 PubMed: Rafehi 2023, Journal: Rafehi 2023 2-generation familu, 1 affected, unaffected parents F - Germany - - - - - SCA cerebellar ataxia; gait ataxia (HP:0002066); 2 3 Johan den Dunnen
00428136 L-15891 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia, bilateral vestibulopathy and clinical autonomic nervous system; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); no oculomotor abnormalities (-HP:0000496); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; MRI brain no atrophy; clinical autonomic nervous system dysfunction 2 1 Johan den Dunnen
00428137 L-15754 PubMed: Rafehi 2023, Journal: Rafehi 2023 - F - Germany - - - - - SCA cerebellar ataxia, bilateral vestibulopathy and clinical autonomic nervous system; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; MRI brain no atrophy; clinical autonomic nervous system dysfunction 2 1 Johan den Dunnen
00428138 L-14575 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia, bilateral vestibulopathy, neuropathy; upper limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; sensory neuropathy 2 1 Johan den Dunnen
00428139 L-15713 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia, bilateral vestibulopathy and clinical autonomic nervous system; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); cerebellar dysarthria (HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain global brain and cerebellar atrophy; clinical autonomic nervous system dysfunction 2 1 Johan den Dunnen
00428140 L-15739 PubMed: Rafehi 2023, Journal: Rafehi 2023 - F - Germany - - - - - SCA cerebellar ataxia, bilateral vestibulopathy; no upper limb ataxia (-HP:0001251); no lower limb ataxia (-HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); no cerebellar dysarthria (-HP:0001260); bilateral hypofunction on video head impulse test; no sensory and/or motor impairment on NCS; MRI brain global brain atrophy; no extracerebellar features 2 1 Johan den Dunnen
00428141 L-15629 PubMed: Rafehi 2023, Journal: Rafehi 2023 - M - Germany - - - - - SCA cerebellar ataxia; upper limb ataxia (HP:0001251); lower limb ataxia (HP:0001251); gait ataxia (HP:0002066); oculomotor abnormalities (HP:0000496); truncal ataxia (HP:0002078); no cerebellar dysarthria (-HP:0001260); no hypofunction on video head impulse test; MRI brain global brain and cerebellar atrophy; no extracerebellar features 2 1 Johan den Dunnen
00428142 ASD1745 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 311 controls - - Australia - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428143 C0063 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 311 controls - - Australia - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428144 ASD1808 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 311 controls - - Australia - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428145 ASD1887 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 311 controls - - Australia - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428146 C0090 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 311 controls - - Australia - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428147 L-3657 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428148 L-3656 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428149 L-3501 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428150 L-3344 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428151 D11 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428152 L-3479 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428153 L-3013 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428154 A10 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428155 C3 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428156 A5 PubMed: Rafehi 2023, Journal: Rafehi 2023 analysis 190 controls - - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428157 L-10409 PubMed: Rafehi 2023, Journal: Rafehi 2023 father M - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00428158 L-10408 PubMed: Rafehi 2023, Journal: Rafehi 2023 mother F - Germany - - - - - Healthy/Control - 2 1 Johan den Dunnen
00447884 FamBPatII2 PubMed: Piarroux 2020 2-generation family, 1 affected, unaffected parents F - France - - - - - SCA delayed motor development, delayed language skills; 1y-vertical nystagmus, upper limb tremor; 2y-severe ataxia, inability to walk/sit unaided, triggered by febrile illness, regained previous neurological status after 1w, episodes recurred twice a year; 6.3y-nystagmus, discrete upper limb postural/action tremor, coordination difficulties, mild learning difficulties, benefited from language rehabilitation; very smiley, communicative with peers 1 1 Johan den Dunnen
00447885 FamAPatIV10 PubMed: Piarroux 2020 4-generation family, several affected M - France - - - - - SCA see paper; ..., acute episodes of ataxia; 2y-onset febrile seizures (2-7d); vertigo, ataxia, nausea, vomiting, occacional confusion; permanent symptoms; no tremor; 2y-nystagmus; no permanent ataxia; no learning difficulties; normal psychomotor development 1 7 Johan den Dunnen
00447886 FamAPatIII11 PubMed: Piarroux 2020 father M - France - - - - - SCA see paper; ..., acute episodes of ataxia; 8y-onset febrile seizures (7d); dizziness, ataxia; permanent symptoms; upper limb postural tremor (from childhood); nystagmus (infancy); no permanent ataxia; no learning difficulties; normal psychomotor development 1 1 Johan den Dunnen
00447887 FamAPatIV5 PubMed: Piarroux 2020 twin brother M - France - - - - - SCA see paper; ..., acute episodes of ataxia; 2y10m-onset febrile seizures; ataxia; permanent symptoms; no tremor; no nystagmus; no permanent ataxia; learning difficulties; speech delay 1 1 Johan den Dunnen
00447888 FamAPatIV6 PubMed: Piarroux 2020 twin brother M - France - - - - - SCA see paper; ..., no acute episodes of ataxia; 3m-two access of breath holding spell; between 2.8-5.5y daily access of gait unsteadiness with bizarre posture left limb lasting several hours; permanent symptoms; upper limb postural tremor (from childhood); no nystagmus; no permanent ataxia; learning difficulties; speech delay 1 1 Johan den Dunnen
00447889 FamAPatIII8 PubMed: Piarroux 2020 mother of twin brothers F - France - - - - - SCA see paper; ..., no acute episodes of ataxia; permanent symptoms; upper limb postural tremor (from childhood); nystagmus; no permanent ataxia; learning difficulties; speech delay 1 1 Johan den Dunnen
00447890 FamAPatIV9 PubMed: Piarroux 2020 Daughter of III10 F - France - - - - - SCA see paper; ..., no acute episodes of ataxia; permanent symptoms; 2y6m-upper limb postural tremor; nystagmus (infancy); no permanent ataxia; no learning difficulties; normal psychomotor development 1 1 Johan den Dunnen
00447891 FamAPatIII10 PubMed: Piarroux 2020 mother of IV9 F - France - - - - - SCA see paper; ..., no acute episodes of ataxia; from 7m-9m brief episodes of lower limb hypertonia lasting some minutes; permanent symptoms; upper limb postural tremor (from childhood); no nystagmus; no permanent ataxia 1 1 Johan den Dunnen
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.