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Table 3 Other results of the review of the literature

From: Documenting manifestations and impacts of autosomal recessive spastic ataxia of Charlevoix–Saguenay to develop patient-reported outcome

Components

Subcomponents

Literature

Audition

 

Briand et al. [21]

Nervous system

 

Epilepsy

Çakar et al. [23], Duquette et al. [38], Wang et al. [141]

 

Dizziness

Bouchard et al. [13]

Locomotor functions

Tremor

Abkur et al. [1], Bouchard et al. [13], Dougherty et al. [36], Incecik et al. [64], Liew et al. [77], McKenzie et al. [83], Narayanan et al. [89], Palmio et al. [99], Pensabene et al. [102], Sahin et al. [116], Samanci et al. [117], Sheetal et al. [119], Vill et al. [137]

Brisk/hyperreflexia

Agarwal et al. [2], Anheim et al. [7], Blumkin et al. [10], Borruat et al. [11], Bouchard [12], Bouchard et al. [13], Bouchard et al. [15], Breckpot et al. [20], Burguêz et al. [22], Criscuolo et al. [30], Dougherty et al. [36], Duquette et al. [38], Dziewulska [39], El Euch-Fayache et al. [40], Garcia et al. [51], Gregianin et al. [55], Grieco et al. [56], Habibzadeh et al. [59], Haga et al. [60], Hamza et al. [62], Hara et al. [63], Incecik et al. [64], Karuvath et al. [67], Liu et al. [78], Martin et al. [80], McKenzie et al. [83], Ogawa et al. [91], Okawa et al. [93], Parkinson et al. [100], Pedroso et al. [101], Picher-Martel and Dupre [104], Prodi et al. [106], Rezende Filho et al. [107], Richter et al. [112], Saffie et al. [115], Samanci et al. [117], Sheetal et al. [119], Shimazaki et al. [120], Shimazaki et al. [121], Terracciano et al. [129], Vingolo et al. [138], Wagner et al. [140], Xiromerisiou et al. [143], Yamamoto et al. [144]

Tendon reflex absent/decreased

Agarwal et al. [3], Aida et al. [4], Al-Ajmi et al. [5], Anheim et al. [7], Bouchard [12], Bouchard et al. [13], Bouchard et al. [15], Bouhlal et al. [18], Breckpot et al. [20], Burguêz et al. [22], Chen et al. [27], Criscuolo et al. [30], Desserre et al. [34], Dougherty et al. [36], Duquette et al. [38], El Euch-Fayache et al. [40], Gazulla et al. [52], Grieco et al. [56], Gücüyener et al. [57], Habibzadeh et al. [59], Hara et al. [63], Kamada et al. [66], Krygier et al. [69], Kuchay et al. [71], Kwon et al. [72], Leavitt et al. [74], Liu et al. [78], Mignarri et al. [85], Miyatake et al. [87], Narayanan et al. [89], Ogawa et al. [91], Okawa et al. [93], Palmio et al. [99], Parkinson et al. [100], Prodi et al. [106], Sahin et al. [116], Shimazaki et al. [120], Shimazaki et al. [121], Shimazaki et al. [122], Terracciano et al. [128], Terracciano et al. [129], Verhoeven et al. [134], Vermeer et al. [136], Vill et al. [137], Wang et al. [141], Xiromerisiou et al. [143], Yamamoto et al. [144]

Clonus

Gregianin et al. [55], Hara et al. [63], Incecik et al. [64], Karuvath et al. [67], Liu et al. [78], Martin et al. [80], Narayanan et al. [89], Prodi et al. [106]

Dystonia

Gazulla et al. [52], Lu et al. [79], McKenzie et al. [83], Oguz et al. [92], Rezende Filho et al. [107], Vermeer et al. [136]

Dysmetria

Agarwal et al. [2], Agarwal et al. [3], Baets et al. [9], Borruat et al. [11], Chen et al. [27], Criscuolo et al. [30], Dougherty et al. [36], Gazulla et al. [52], Gazulla et al. [53], Grieco et al. [56], Martin et al. [80], Masciullo et al. [82], Pensabene et al. [102], Ricca et al. [110], Ricca et al. [109], Srikajon et al. [123], Synofzik et al. [127], Terracciano et al. [128], Vill et al. [137], Xiromerisiou et al. [143]

Spasticity

Agarwal et al. [2], Agarwal et al. [3], Anheim et al. [7], Borruat et al. [11], Bouchard [12], Bouchard et al. [13], Bouchard et al. [15], Breckpot et al. [20], Burguêz et al. [22], Çakar et al. [23], Criscuolo et al. [30], Desserre et al. [34], Dougherty et al. [36], Douglas et al. [37], Duquette et al. [38], Dziewulska [39], El Euch-Fayache et al. [40], Gazulla et al. [52], Gazulla et al. [53], Gazulla et al. [54], Gregianin et al. [55], Grieco et al. [56], Gücüyener et al. [57], Haga et al. [60], Hamza et al. [62], Hara et al. [63], Incecik et al. [64], Krygier et al. [69], Kuchay et al. [71], Kwon et al. [72], Leavitt et al. [74], Lessard et al. [76], Liew et al. [77], Martin et al. [80], Masciullo et al. [81], Narayanan et al. [89], Ogawa et al. [91], Oguz et al. [92], Okawa et al. [93], Pablo et al. [96], Palmio et al. [99], Parkinson et al. [100], Pedroso et al. [101], Pensabene et al. [102], Petrov [103], Pilliod et al. [105], Rezende Filho et al. [107], Richter et al. [112], Sahin et al. [116], Samanci et al. [117], Sheetal et al. [119], Shimazaki et al. [120], Shimazaki et al. [121], Srikajon et al. [123], Synofzik et al. [127], Terracciano et al. [129], Tzoulis et al. [131], Vermeer et al. [136], Yamamoto et al. [144]

Ataxia

Agarwal et al. [2], Agarwal et al. [3], Aida et al. [4], Al-Ajmi et al. [5], Ali et al. [6], Anheim et al. [7], Baets et al. [9], Blumkin et al. [10], Borruat et al. [11], Bouchard [12], Bouchard et al. [13], Bouchard et al. [15], Bouhlal et al. [18], Breckpot et al. [20], Burguêz et al. [22], Çakar et al. [23], Criscuolo et al. [30], Duquette et al. [38], Gagnon et al. [47], Garcia et al. [51], Gazulla et al. [52], Gazulla et al. [54], Grieco et al. [56], Habibzadeh et al. [59], Hamza et al. [62], Incecik et al. [64], Kamada et al. [66], Krygier et al. [69], Kuchay et al. [71], Kwon et al. [72], Leavitt et al. [74], Liu et al. [78], Lu et al. [79], Martin et al. [80], Masciullo et al. [81], Masciullo et al. [82], McKenzie et al. [83], Mignarri et al. [85], Miyatake et al. [87], Narayanan et al. [89], Ogawa et al. [91], Oguz et al. [92], Okawa et al. [93], Ouyang et al. [95], Pablo et al. [96], Palmio et al. [99], Parkinson et al. [100], Pedroso et al. [101], Picher-Martel and Dupre [104], Pilliod et al. [105], Rezende Filho et al. [107], Ricca et al. [110], Ricca et al. [109], Saffie et al. [115], Sahin et al. [116], Samanci et al. [117], Shimazaki et al. [120], Shimazaki et al. [121], Shimazaki et al. [122], Srikajon et al. [123], Terracciano et al. [128], Terracciano et al. [129], Tzoulis et al. [131], Verhoeven et al. [134], Vermeer et al. [136], Vill et al. [137], Yamamoto et al. [144], Xiromerisiou et al. [143]

Distal atrophy

Ali et al. [6], Anheim et al. [7], Bouchard [12], Bouchard et al. [13, 14], Breckpot et al. [20], Criscuolo et al. [30], Desserre et al. [34], Duquette et al. [38], Dziewulska [39], El Euch-Fayache et al. [40], Gagnon et al. [49], Garcia et al. [51], Gazulla et al. [53], Gregianin et al. [55], Grieco et al. [56], Haga et al. [60], Hara et al. [63], Kamada et al. [66], Krygier et al. [69], Kuchay et al. [71], Leavitt et al. [74], Liu et al. [78], Martin et al. [80], Masciullo et al. [81], McKenzie et al. [83], Miyatake et al. [87], Okawa et al. [93], Ouyang et al. [95], Palmio et al. [99], Pedroso et al. [101], Prodi et al. [106], Rezende Filho et al. [107], Robitaille et al. [113], Shimazaki et al. [120], Terracciano et al. [128], Tzoulis et al. [131], Verhoeven et al. [134], Vermeer et al. [136], Vill et al. [137], Vingolo et al. [138]

Babinski sign

Anheim et al. [7], Bouchard [12], Bouchard et al. [13], Bouchard et al. [15], Burguêz et al. [22], Chen et al. [27], Criscuolo et al. [30], Duquette et al. [38], Garcia et al. [51], Gazulla et al. [52], Gazulla et al. [53], Gregianin et al. [55], Grieco et al. [56], Hamza et al. [62], Hara et al. [63], Incecik et al. [64], Kamada et al. [66], Kuchay et al. [71], Kwon et al. [72], Liu et al. [78], Martin et al. [80], Mignarri et al. [85], Miyatake et al. [87], Narayanan et al. [89], Ogawa et al. [91], Okawa et al. [93], Ouyang et al. [95], Palmio et al. [99], Pensabene et al. [102], Petrov [103], Prodi et al. [106], Rezende Filho et al. [107], Ricca et al. [110], Ricca et al. [109], Richter et al. [112], Robitaille et al. [113], Sahin et al. [116], Samanci et al. [117], Shimazaki et al. [120], Shimazaki et al. [121], Shimazaki et al. [122], Srikajon et al. [123], Synofzik et al. [127], Terracciano et al. [128], Terracciano et al. [129], Verhoeven et al. [134], Vingolo et al. [138], Wagner et al. [140], Wang et al. [141], Xiromerisiou et al. [143], Yamamoto et al. [144]

Fasciculations

Leavitt et al. [74]

Pallesthesia of the lower limbs

Anheim et al. [7], Gazulla et al. [52], Gregianin et al. [55], Kamada et al. [66], McKenzie et al. [83], Ogawa et al. [91], Palmio et al. [99], Rezende Filho et al. [107], Shimazaki et al. [120], Vill et al. [137], Vingolo et al. [138], Yamamoto et al. [144]

Posture

Bouhlal et al. [17], Dougherty et al. [36], Gazulla et al. [52], Gazulla et al. [53], Gregianin et al. [55], Tzoulis et al. [131], Vingolo et al. [138]

Postural control

Shimazaki et al. [120]

Paroxysmal kinesigenic choreoathetosis

Briand et al. [21]

Dysdiachokinesia

Agarwal et al. [2]

Rigidity

Habibzadeh et al. [59]

Mirror movements

Habibzadeh et al. [59]

Hypokinesia

Habibzadeh et al. [59]

Bradikinesia

Wagner et al. [140]

Childhood development

Psychomotor delays

Agarwal et al. [3], Anheim et al. [7], Bouchard et al. [15], Dougherty et al. [36], Gregianin et al. [55], Grieco et al. [56], Mignarri et al. [85], Oguz et al. [92]

Sensory system

Peripheral neuropathy of the lower limbs

Abkur et al. [1], Briand et al. [21], Dziewulska [39], Kuchay et al. [71], Pedroso et al. [101], Samanci et al. [117], Tzoulis et al. [131]

Peripheral neuropathy

Al-Ajmi et al. [5], Ali et al. [6], Agarwal et al. [3], Anheim et al. [8], Bouhlal et al. [18], Breckpot et al. [20], Desserre et al., Dougherty et al., Duquette et al. [38], Gregianin et al. [55], Grieco et al. [56], Krygier et al. [69], Krygier et al. [70], Liew et al. [77], Martin et al. [80], Masciullo et al. [81], Miyatake et al. [87], Oguz et al. [92], Palmio et al. [99], Pedroso et al. [101], Pensabene et al. [102], Pilliod et al. [105], Rezende Filho et al. [107], Ricca et al. [109], Saffie et al. [115], Shimazaki et al. [121], Synofzik et al. [127], Terracciano et al. [129], Verhoeven et al. [134], Vermeer et al. [136], Yu-Wai-Man et al. [145]

Neuropathy

Al-Ajmi et al. [5], Baets et al. [9], Bouchard [12], Bouchard et al. [13], Bouhlal et al. [18], Çakar et al. [23], Chen et al. [27], Cho et al. [28], El Euch-Fayache et al. [40], Gazulla et al. [53], Gazulla et al. [54], Gücüyener et al. [57], Hara et al. [63], Kamada et al. [66], Karuvath et al. [67], Krygier et al. [69], Kwon et al. [72], Leavitt et al. [74], Liu et al. [78], Mignarri et al. [85], Miyatake et al. [87], Okawa et al. [93], Parkinson et al. [100], Pedroso et al. [101], Ricca et al. [110], Rezende Filho et al. [107], Sahin et al. [116], Sheetal et al. [119], Shimazaki et al. [122], Srikajon et al. [123], Stevens et al. [124], Tzoulis et al. [131], Verhoeven et al. [134], Vermeer et al. [136], Vill et al. [137], Wang et al. [141], Xiromerisiou et al. [143], Yamamoto et al. [144]

Paresis distal

Breckpot et al. [20], Dziewulska [39], Gregianin et al. [55], Terracciano et al. [128], van Lint et al. [133], Verhoeven et al. [134], Vill et al. [137]

Paresthesis

Leavitt et al. [74], Sahin et al. [116]

Proprioception

Kamada et al. [66], Sahin et al. [116], Samanci et al. [117], Sheetal et al. [119], Srikajon et al. [123]

Musculoskeletal deformations

Distal

Bouchard and Langlois [16]

Upper limbs

Bouchard and Langlois [16]

Claw hand

Ali et al. [6], Bouchard et al. [13], Dougherty et al. [36], Ogawa et al. [91], Okawa et al. [93], Shimazaki et al. [120], Shimazaki et al. [122]

Scoliosis

Çakar et al. [23], Criscuolo et al. [30], Desserre et al. [34], El Euch-Fayache et al. [40], Hamza et al. [62], Prodi et al. [106]

Bone density

McKenzie et al. [83]