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HEREDITARY ATAXIAS: DOMINANT

Spinocerebellar Ataxia (SCA)
1: Ataxin-1; CAG repeat; 6p22
2: Ataxin-2; CAG repeat; 12q24
3: Ataxin-3; CAG repeat; 14q32
4: ZFHX3; GGC repeat; 16q22
5: β-III Spectrin; 11q13
6: CACNA1A; CAG repeat; 19p13
7: Ataxin-7; CAG repeat; 3p21
8: ATXN8OS; CTG repeat; 13q21
9: ?
10: ATXN10; ATTCT repeat; 22q13
11: TTBK2; 15q14
12: PPP2R2B; CAG repeat; 5q31
13: KCNC3; 19q13.33
14: PRKCG; 19q13.42
15, 16, 29: ITPR1; 3p26
17: TBP; CAG repeat; 6q27
18: 7q31
19: KCND3; 1p13
20: 11q12, Duplication
21: TMEM240; 1p36
22: KCND3; 1p13
23: PDYN; 20p13
25: PNPT1; 2p16
26: EEF2; 19p13
27: FGF14; 13q33
28: AFG3L2; 18p11
30: 4q34
31: TGGAA repeat; 16q22
32: 7q32
34: ELOVL4; 6q14
35: TGM6; 20p13
36: NOP56; 20p13
37: DAB1; 1p32
38: ELOVL5; 6p12
39: 11q21
40: CCDC88C; 14q32
41: TRPC3; 4q27
42: CACNA1G; 17q21
43: MME; 3q25
44: GRM1; 6q24
45: FAT2; 5q32
46: PLD3; 19q13
47: PUM1; 1p35
48: STUB1; 16p13
49: SAM9DL; 7q21
50: NPTX1; 17q25
SLC1A3; 5p13
THAP11: 16q22

SCA: Differential features
Dominant ataxia syndromes, Other
Ataxia + Epilepsy: KCNA2; 1p13
CANPMR: CAMTA1; 1p36
CAPOS: ATP1A3; 19q13
Cerebral Palsy
CIAT: SCN8A
Congenital ataxia
Cough, Spasmodic
Deafness & Narcolepsy: DNMT1; 19p13
DRPLA: ATN1; CAG repeat; 12p13
DYT28: KMT2B; 19q13
Familial dementia: ITM2B; 13q14
Gillespie: PAX6; 11p13
HADDS: EBF3; 10q26
HADDTS: CTBP1; 4p16
Hemiplegia, alternating: 1; 2
Holmes ataxia
Huntington 2: JPH3; CAG/CTG repeat; 16q23
Leukodystrophy
  Adult-onset: Lamin B1; 5q23
  H-ABC (HLD6): TUBB4A; 19p13
Multiple hamartoma syndrome: PTEN; 10q23
Myasthenia + CNS: SNAP25b; 20p12
Myelocerebellar: SAMD9L; 7q21
Myoclonic epilepsy
  KCNA2; 1p13
  MEAK: KCNC1; 11p15
Myoclonus
  Cortical: NOL3; 16q22
  Branchial & Spasticity: GFAP; 17q21
  Episodic ataxia + Epilepsy: SCN2A; 2q24
Neurodevelopmental
  Ataxia+: CAPRIN1; 11p13
  NEDLAS: GRIK2; 6q16
Neuronal intranuclear inclusion disease
Nystagmus
Parenchymal degeneration
Peripheral Neuropathy
  CMT 1F: NFL
  Rigidity
  Saccades slow + Orthostatism
  SANDO: POLG1; 15q25
  Sensory ataxia: 16q22
  Sensory-Motor: IFRD1; 7q22
  Thermoanalgesia & Fungiform papillae loss
Prion disease: Prion protein; 20p12
Seizures
  GLUT1DS2: SLC2A1; 1p35
  MRD55: NUS1; 6q22
SMEI (Dravet; EIEE6): SCN1A; 2q24
SPAR
Spastic ataxia syndromes
Tremor, Essential: 3q13
Vanishing white matter
Vermal aplasia
Von Hippel-Lindau: VHL protein; 3p26
Episodic ataxias (EA): Usually Dominant
  EA1 + Myokymia: KCNA 1; 12p13
  EA2, Paroxysmal: α1A Ca++ channel; 19p13
  EA3 + Vertigo & Tinnitus: 1q42
  EA4 (PATX)
  EA5: CACNB4β4; 2q22
  EA6 + Migraine & CNS: SLC1A3; 5p13
  EA7: 19q13
  EA8: ? UBR4; 1p36
  EA9: FGF14; 13q33
  EA: SCN8A; 12q13
  CAPOS: ATP1A3; 19q13
  Other
    + Choreoathetosis & Spasticity: SLC2A1; 1p34
    + Epilepsy & Myoclonus: SCN2A; 2q24
    + Optic atrophy & Hearing loss: ATP1A3; 19q13
    INNFD: NALCN; 13q23
    + Seizures & Dyskinesias: PRRT2; 16p11
    + Movements & Spasticity: SLC2A1; 1p34
  Recessive
    LBSL: DARS2; 1125
    Joubert 5: CEP290; 12q21
    PDHA1: Xp22
  Differential diagnosis

Ataxia Syndromes: Other
  Recessive
  X-linked
  Congenital
  DNA repair defects
  DNA repeat disorders
  Metabolic disorders
  Mitochondrial
  Multisystem disorders
  Spastic
  Acquired


Cajal

Dominant Spinocerebellar Ataxia (SCA): General 35 Dominant Spinocerebellar Ataxia (SCA): Differential diagnosis 64

Age
Polyneuropathy
Syndromes
Other


Spinocerebellar Ataxia 1 (SCA 1) (ADCA I)
  Ataxin-1 (ATXN1) ; Chromosome 6p22.3; Dominant

SCA 2 (ADCA I) 1
  Ataxin-2 (ATXN2) ; Chromosome 12q24.12; Dominant


SCA 3 (Machado-Joseph) (ADCA I)
  Ataxin-3 (ATXN3; MJD gene) ; Chromosome 14q32.12; Dominant
SCA 4 (Sensory Ataxic Neuropathy 2)
  ZFHX3 ; Chromosome 16q22.2-q22.3; Dominant

SCA 5 (ADCA III) 33
  β-Spectrin, nonerythrocytic, 2 (β-III Spectrin; SPTBN2) ; Chromosome 11q13.2; Dominant

SCA 6 (ADCA III)
  Calcium channel, voltage dependent, P/Q type, α1A subunit (CACNA1A; CaV2.1) ; Chromosome 19p13.2; Dominant
SCA 7 (ADCA II)
  Ataxin-7 (ATXN7) ; Chromosome 3p14.1; Dominant
SCA 8 9
  ATXN8OS (SCA8) ; Chromosome 13q21.33; Dominant (Usually)
  ATXN8 ; Chromosome 13q21; Dominant (Usually)
SCA 9 (ADCA I)
  Chromosome ?; Dominant
SCA 10 (ADCA III) 10
  Ataxin 10 (ATXN10; SCA 10 gene; E46L) ; Chromosome 22q13.31; Dominant
SCA 11 (ADCA III) 11
  tau tubulin kinase 2 (TTBK2) ; Chromosome 15q15.2; Dominant
SCA 12 12
  Protein phosphatase 2, regulatory subunit B, β (PPP2R2B) ; Chromosome 5q32; Dominant
SCA 13 13
  Potassium channel, voltage-gated, shaw-related subfamily, member 3 (KCNC3) ; Chromosome 19q13.33; Dominant

SCA 14 14
  Protein kinase Cγ (PRKCG) ; Chromosome 19q13.42; Dominant or Recessive
SCA 15 16 17
  Inositol 1,4,5-triphosphate receptor, type 1 (ITPR1) ; Chromosome 3p26.1; Dominant
  • Nosology: SCA16
  • Epidemiology: Australian, French & Japanese families; 1% of AD SCA
  • Genetics
  • ITPR1 protein
    • Intracellular IP3-gated calcium channel
    • Inositol 1,4,5-triphosphate-responsive
    • Modulates intracellular calcium signaling
    • High expression in Cerebellar Purkinje cells
    • ITP as 2nd messenger: Produced in response to activation of mGluR1
    • ITPRs: Ca++ channels in endoplasmic reticulum
    • Mutant protein
      • Reduced levels of ITPR1 in cells
      • Probable disease mechanism: Haploinsufficiency
  • Clinical
    • Onset
      • Age: Range 10 to 66 years; Mean 40 years
      • Ataxia: Gait; Dysarthria; Head Tremor
      • No anticipation
    • Ataxia (100%): Often mild
      • Gait disorder 71%
      • Limb ataxia 86%
      • Speech: Dysarthria
      • Ocular
        • Nystagmus, gaze evoked
        • Saccades: Dysmetric
        • Smooth pursuit: Impaired
      • Tremor
        • Upper limb
        • Head (15%): Regular; Rotatory
      • Dysphagia: Late in course
      • Strength: Normal
    • Other features: Some patients
      • Pyramidal signs
      • Cognitive dysfunction: Mild
    • Course: Variable
      • Slow progression
      • Patients usually remain ambulatory
  • Laboratory
    • MRI
      • Cerebellum
        • Superior (Dorsal) vermis: Atrophy
        • Hemispheres & tonsils: Atrophic or Spared
    • Nerve conduction velocities: Normal
  • ITPR1 variant syndromes
    • SCA 29
        ITPR1; Chromosome 3p26; Dominant
      • Nosology
      • Epidemiology
        • Multiple families
        • 15% of Congenital nonprogressive ataxia
      • Genetics
        • Inheritance: Dominant or Sporadic
        • Mutations
          • Missense
          • T267M, T267R, S277I, T594I, Asn602Asp
          • Heterozygous
      • Clinical
        • Onset age: Congenital or Infant
        • Hypotonia
        • Cerebellar
          • Gait ataxia
          • Tremor
          • Oculomotor apraxia
          • Dysarthria
          • Nystagmus
          • Dysmetria & Dysdiadochokinesia
        • Cognitive disability
        • Dystonia: Some patients
        • Myoclonus
        • Cognition: Mild delay
        • Course: Non-progressive
      • Brain MRI
        • Cerebellar hypoplasia
          • Especially anterior vermia & superior hemispheres
          • May be progressive
        • Pontine tegmentum: Atrophy
    • Ataxic Cerebral Palsy
      • Epidemiology: 2 patients
      • ITPR1 genetics
        • Mutations: N602D; S1487D
        • Inheritance: de novo; Dominant
        • Associated with: Increased paternal age
      • Clinical
        • Onset age: Early childhood
        • Ataxia
        • Intellectual disability
        • Course: Stable
      • Brain imaging: Normal
    • ITPR1 variant: Gillespie syndrome 71
      • Epidemiology: 30 patients
      • Genetics
      • ITPR1 protein
      • Clinical
        • Onset age: < 1 year
        • Hypotonia: Congenital or Infancy
        • Cerebellar ataxia: Non-progressive
        • Intellectual disability
        • Eyes
          • Iris: Hypoplasia
          • Pupils: Fixed; Dilated
        • Cardiac: Pulmonary stenosis
      • Laboratory
        • Brain MRI: Cerebellar atrophy, Progressive
    • Mouse disorder (opt): Ataxia with Spontaneous itpr1 mutation
    • Dog disorder: Italian Spinone dog with intronic GAA repeat

SCA15: Cerebellar Hemisphere & Vermis Atrophy


SCA 17: Ataxia + Intellectual Deterioration 18
  TATA box-binding protein (TBP) ; Chromosome 6q27; Dominant
SCA 18: Ataxia with sensory disorder and neurogenic muscular atrophy
  Chromosome 7q22-q32; Dominant


SCA 19: Cerebellar Ataxia + Cognitive impairment 24
  KCND3 ; Chromosome 1p13.2; Dominant or de novo
SCA 22: Cerebellar ataxia, Pure 27
  KCND3 ; Chromosome 1p13.2; Dominant
SCA 20: Ataxia with Dysphonia & Dentate calcification 34
  Chromosome 11q12; Dominant
Ataxia with Spasmodic Cough 45
  Dominant

SCA 21: Ataxia with Cognitive impairment & Extrapyramidal 23
  Transmembrane protein 240 (TMEM240) ; Chromosome 1p36.33; Dominant
SCA 23 37
  Prodynorphin (PDYN) ; Chromosome 20p13; Dominant & Sporadic
SCA 25: Spinocerebellar ataxia & Sensory neuropathy 30
  Polyribonucleotide Nucleotidyltransferase, Mitochondrial 1 (PNPT1; PNPase) ; Chromosome 2p16; Dominant

SCA 26 : Pure cerebellar ataxia 41
  Eukaryotic translation elongation factor 2 (EEF2) Chromosome 19p13.3; Dominant
SCA 27A: SCA + Tremor & Dyskinesia (ADCA I) 26
  Fibroblast growth factor 14 (FGF14) ; Chromosome 13q33.1; Dominant or de novo
SCA 28: SCA with Ophthalmoparesis & Hyperreflexia (ADCA I) 43
  ATPase family gene 3-like 2 (AFG3L2) ; Chromosome 18p11.21; Dominant
SCA 30: Pure cerebellar ataxia (ADCA III) 47
  Chromosome 4q34.3-q35.1; Dominant
SCA 31: Pure cerebellar ataxia (ADCA III) 52
  Brain-Expressed, Associated with NEDD4 (BEAN) ; Penta-nucleotide (TGGAA)n repeat insertion; Chromosome 16q21; Dominant
SCA 32: Cerebellar ataxia with Azospermia and Mental Impariment (ADCA I)
  Chromosome 7q32-q33; Dominant
SCA 35: Cerebellar ataxia with Upper motor neuron features (ADCA I) 53
  Protein-glutamine gamma-glutamyltransferase 6 (TGM6) ; Chromosome 20p13; Dominant
SCA 36: Cerebellar ataxia with Motor neuron involvement 54
  Nuclear Protein 56 (NOP56; NOL5A) ; Chromosome 20p13; Dominant
SCA 37: Cerebellar ataxia with abnormal Vertical Eye Movements 61
  Disabled, drosophila, homolog of, 1 (DAB1); Chromosome 1p32.; Dominant
SCA 38 66
  Elongation of very long chain fatty acids-like 5 (ELOVL5) ; Chromosome 6p12.1; Dominant 66
SCA 39 78
  Chromosome 11q21-11q22.3; Dominant
SCA 40 67
  Coiled-coil domain-containing protein 88C (CCDC88C; Daple) ; Chromosome 14q32.11; Dominant
SCA 41 70
  Transient receptor potential cation channel, subfamily C, Member 3 (TRPC3) ; Chromosome 4q27; Dominant
SCA 42 69
  Calcium channel, voltage-dependent, T type, alpha-1G subunit (CACNA1G) ; Chromosome 17q21.33; Dominant
SCA 45
  Fat tumor suppressor, Drosophila, homolog of, 2 (FAT2; MEGF1) ; Chromosome 5q33.1; Dominant
SCA 47 (PADDAS)
  Pumilio, Drosophila, homolog of, 1 (PUM1; KIAA0099) ; Chromosome 1p35.2; Dominant
Dentatorubral-Pallidoluysian Atrophy (DRPLA) 48
  Atrophin-1 (DRPLA gene; ATN1) ; Chromosome 12p13.31; Dominant
Holmes ataxia Cerebelloparenchymal degeneration (CPD I)
Cerebellar vermal aplasia
Leukoencephalopathy: Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC; HLD6) 59
  Tubulin, beta-4A (TUBB4A) ; Chromosome 19p13.3; Dominant (Sporadic)

Prion disease
  Prion protein (PRNP) ; Chromosome 20p13; Dominant

Creutzfeldt-Jakob
Familial Fatal Insomnia
Gerstmann-Straüssler-Schienker
Neuropathy: Autonomic & Sensory
Other variants
Prion-like domains
  Creutzfeldt-Jakob: Sporadic

Vertical and Horizontal Nystagmus
  Autosomal; Not linked to Chromosome 19
Multiple hamartoma syndrome (Cowden; Lhermitte-Duclos; CWS1)
  Phosphatase & Tensin homolog (PTEN) ; Chromosome 10q23.31; Dominant
Cerebellar ataxia, Deafness & Narcolepsy (ADCA-DN) 56
  DNA methyltransferase 1 (DNMT1) ; Chromosome 19p13.2; Dominant or De novo
Cerebellar ataxia, Non-progressive with Mental retardation (CANPMR)
  Calmodulin-binding transcription activator 1 (CAMTA1) ; Chromosome 1p36.31-p36.23; Dominant or de novo
Lissencephaly 9 with Complex Brainstem Malformation 82
  Microtubule-actin cross-linking factor 1 (MACF1) ; Chromosome 1p34.3; Dominant, de novo
Neonatal-Onset, Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis 79
  Phosphofurin acidic cluster sorting protein 2 (PACS2) ; Chromosome 14q32.33; de novo
Alternating Hemiplegia of Childhood 1 (AHC1)
  ATPase, Na+/K+ Transporting, α2 polypeptide (ATP1A2) ; Chromosome 1q23.2; Dominant
Alternating hemiplegia of childhood 2 (AHC2)
  ATPase, Na+/K+ Transporting, α3 polypeptide 3 (ATP1A3) ; Chromosome 19q13.2; Dominant
CAPOS syndrome
  ATPase, Na+/K+ Transporting, α3 polypeptide 3 (ATP1A3) ; Chromosome 19q13.2; Dominant or de novo
Von Hippel-Lindau Syndrome
  VHL protein ; Chromosome 3p25.3; Dominant
Familial Cortical Myoclonus 58
  Nucleolar protein 3 (NOL3; ARC) ; Chromosome 16q22.1; Dominant
Myelocerebellar Disorder (Ataxia-Pancytopenia; ATXPC) 72
  Sterile alpha motif domain-containing protein 9-like (SAMD9L) ; Chromosome 7q21.2; Dominant or de novo
Ataxia with Slow ocular saccades, Neuropathy & Orthostatism 65
  Dominant
SCA50: Ataxia 90
  Neuronal Pentraxin 1 (NPTX1) ; Chromosome 17q25.3; Dominant or de novo
SCA: Ataxia 99
  Thap domain containing protein 11 (THAP11; Ronin) ; Chromosome 16q22.1; Dominant
Familial Dementia with Amyloid angiopathy & Spastic Ataxia
  Integral membrane protein 2B (ITM2B) ; Chromosome 13q14.2; Dominant
Paroxysmal Disorders: Seizures; Dyskinesias; Ataxia, episodic & Hemiplegic migraine
  Proline-rich transmembrane protein 2 (PRRT2) ; Chromosome 16p11.2; Dominant
Hypotonia, Ataxia & Delayed Development (HADDS) 75
  Early B-Cell factor 3; EBF3 (EBF3; COE3) ; Chromosome 10q26.3; Dominant or Sporadic
Hypotonia, Ataxia, Developmental-Delay, Tooth-enamel defects (HADDTS) 98
  C-Terminal-Binding protein 1 (CTBP1) ; Chromosome 4p16.3; Dominant or de novo
Progressive Myoclonus epilepsy + Ataxia (EPM7; MEAK) 77
  Potassium channel, voltage-gated, Shaw-related subfamily, member 1 (KCNC1) ; Chromosome 11p15.1; Sporadic or Dominant
Mental retardation, autosomal dominant 55, + Seizures (MRD55) 100
  NUS1 Dehydrodolichyl diphosphate synthase subunit (NUS1) ; Chromosome 6q22.1; Dominant or de novo
Dystonia 28 (DYT28)
  Lysine-specific methyltransferase 2B (KMT2B) ; Chromosome 19q13.12; Dominant or de novo
Neurodevelopmental disorder + Impaired language & Ataxia ± Seizures (NEDLAS)
  Glutamate receptor, Ionotropic, Kainate 2 (GRIK2) ; Chromosome 6q16.3; Dominant or de novo
Ataxia, Early onset + Neurodevelopmental Disorder & Neuropathy 94
  Cell cycle associated protein 1 (CAPRIN1) ; Chromosome 11p13; Dominant, de novo
Dominant Ataxia, Other

Episodic Ataxias 73


Episodic ataxias: Differential diagnosis
Type Onset
age (yrs)
Attack
duration
Symptoms Interictal features Triggers
EA1: KCNA1 < 20 Minutes Muscle spasms Seizures, Myokymia Exertion; Posture Δ, Stress; Startle
EA2: CACNA1A < 20 Hours Vertigo, Weakness Ataxia, Nystagmus Exertion; Stress; Alcohol
EA3: 1q42 < 20 Minutes Vertigo, Tinnitus, Headache None Kinesigenic
EA4: ? 20-50 Hours Vertigo, Diplopia Nystagmus, Smooth pursuit Δ
EA5: CACNB4 20-60 Hours Vertigo Nystagmus, Ataxia
EA6: EAAT1 < 10 Hours Cognitive impairment Seizures, Ataxia Fever
EA7: 19q13 < 20 Hours Vertigo, Weakness None Exertion; Excitement
EA8: 1p36 < 2 Mins to Hrs Ataxia, Weakness Tremor Tiredness; Stress
EA: FGF14 2 to 8 Mins to Days Ataxia Tremor, Nystagmus Fever; Stress
EA: SCN8A 10 2 to 3 Days Ataxia; Diplopia None Fever
CSE: GLUT1 2 to 15 20 minutes Chorea; Ataxia; Headache Spasticity Alcohol, Fatigue, Stress, Exercise
EA: SCN2A < 1 yr Mins to Hrs Ataxia; Dysarthria Seizures
EA: CEP290 46 yrs Mins to Hrs Ataxia; Dysarthria; Diplopia Seizures
SCA19: KCND3 Ataxia Seizures; Cognitive; PN


EA 1: Episodic Ataxia / Myokymia Syndrome
  Potassium Voltage-Gated Channel (KCNA 1) ; Chromosome 12p13.32; Dominant

EA 2: Hereditary Paroxysmal Cerebellar Ataxia
  α1A Calcium channel, voltage dependent (CACNA1A) ; Chromosome 19p13.2; Dominant
Episodic ataxia 3 : With vertigo & tinnitus
  Chromosome 1q42; Dominant
Episodic ataxia 4 (EA4; PATX)
  Dominant
Episodic ataxia 5 (EA5)
  CACNB4β4 ; Chromosome 2q23.3; Dominant
EA6: Episodic ataxia + Seizures, Migraine & Alternating hemiplegia 42
  SLC1A3 (EAAT1) ; Chromosome 5p13.2; Dominant or de novo
Episodic ataxia 7 (EA7)
  Chromosome 19q13; Dominant
Episodic ataxia 8 (EA8)
  Chromosome 1p36.13-p34.3; Dominant
Episodic ataxia + Paroxysmal choreoathetosis & Spasticity (Dystonia-9; DYT9; CSE)
  SLC2A1 (GLUT1) ; Chromosome 1p34.2; Dominant
Episodic Ataxia + Diplopia 101
  SCN8A ; Chromosome 12q13.13; Dominant (de novo)
Glucose Transporter 1 Deficiency Syndrome 2 (GLUT1DS2)
  SLC2A1 (GLUT1) ; Chromosome 1p34.2; Dominant or Sporadic
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References
1. Nature Genetics 1996;14:237-238
2. SCA1: Hum MolGenet 1995;4:1585-90
3. SCA2: Hum Mol Genet 1997;6:709-715
4. SCA3: Ann.Neurol. 1996;39:490-99; J.Neurol.Sci. 1995;132:71-75
5. SCA4: Am.J.Hum.Genet. 1996;59:392-399, J Neurol 2003;250:668–671, Am J Hum Genet 2005;77: Online July
6. SCA5: Nat.Genet. 1994;8:280-284
7. SCA6: Nat.Genet. 1997;15:62-69; Hum.Mol.Genet. 1997;6:1289-93; Hum.Mol.Genet. 1997;6:1283-87
8. SCA7: Am.J.Hum.Genet. 1996;59:1328-36; Nat.Genet. 1997;17:65-70
9. SCA8: Nature Genetics 1999;21:379-384
10. SCA10: Am J Hum Genet 1999;64:594-599, Nature Genetics 2000;191-194, Arch Neurol 2002;59:1285-1290, Cerebellum. 2005;4:37-42
11. SCA11: Am J Hum Genet 1999;65:420-426
12. SCA12: Nature Genet 1999;23: 391-392; Ann Neurol 2001;Nov On-Line
13. SCA13: Am J Hum Genet 2000;67:229-235, J Comp Neurol 2007;502:953-972
14. SCA14: Ann Neurol 2000;48:156-163, Arch Neurol 2002;59:1291-1295; Am J Hum Genet 2003; Online March, Neurology 2003;61:1760–1765, Ann Neurol 2005;58:720–729, Mov Disord 2018 Mar 30
15. SCA8: Neurology 2000;55:649-657, Acta Neurologica Scandinavica 2008;117:41-48
16. SCA 15: Neurology 2001;57:1913–1915, Neurobiol Disease 2003;13:147–157, Neurology 2002;58:A35, PLoS 2007; Online May
17. Neurology 2001;57:96-100, Neurology 2006;67;1236-1241
18. Hum Molec Genet 1999;8:2047-2053, Hum Molec Genet 2001;10:1441-1448, Neurology 2001;56:A130, Neurology 2003;61:1441-1443, Eur J Hum Genet 2007 Nov 28
19. Neurology 2001;56:A60
20. NEJM 2001;345:17-24
21. J Neurol 2001;248:911-914
22. Neurology 2001;57:1843–1848, Neurology 2005;64:2090–2097
23. Ann Neurol 2002;On-Line Aug, Brain 2014; Online July
24. Human Genet 2002;On-Line Sep, J Neurol 2001;248:113–120, Ann Neurology 2012; July, Int J Mol Sci 2020;21:E5802, Int J Mol Sci 2021;22(15)
25. Eur Neurol 2002;48:210–217, Neuropathol Appl Neurobiol 2013 Apr 26
26. Am J Hum Genet 2003;72:191–199
27. Brain 2003;126:1293-1299, Ann Neurology 2012; July
28. Human Molecular Genetics 2003;12:1485–1496
29. Ann Neurol 2003;On-Line Aug
30. Ann Neurol 2004;55:97–104, Ann Neurol 2022 Apr 12
31. Neurology 2003;61:1743–1748
32. Neurology 2004;62:17–22
33. Neurology 2004;62:327–329
34. Brain 2004;127:1172-1181
35. Lancet Neurol 2004;3:291–304, J Neurol Neurosurg Psychiatry 2014; Aug 18
36. Neurology 2004;62:1623–1625
37. Brain 2004; Online August, Am J Human Genet 2010; Online October
38. Arch Neurol 2002;59:1430-1436
39. Arch Neurol 2004;61:1242-1248
40. Neuromusc Disord 2004; Online September
41. Ann Neurol 2005;57:349–354
42. Neurology 2005; Online June 2005
43. Brain 2005; Online Oct 26, Mol Neurobiol 2023 Nov 28
44. Nature Genetics 2006; Online Jan 22
45. Arch Neurol 2006;63:553-555
46. Arch Neurol 2004;61:257-261, Muscle Nerve 2019 Jun 22
47. JNNP 2008; Online November
48. Mov Disord 2009; Online June
49. Journal of Neuroscience 2009;29:9244–9254, Nature Genet 2010; Online March, Front Genet 2015;6:311
50. Am J Med Genet B Neuropsychiatr Genet 2009 Aug 12
51. J Neurol 2009 Jul 31
52. Am J Hum Genet 2009; Online October, Neurology 2011;77:1853-1855, J Neurol Sci 2022 Dec 16
53. Brain 2010; Online November
54. Am J Human Genet 2011;89:121-130, JNNP 2014; Online December, Mov Disord Clin Pract 2023;10:992-997
55. PLoS Genet 2011;7:e1002325
56. Hum Mol Genet 2012 Feb 9
57. EMBO Mol Med 2012 Apr 4
58. Ann Neurol 2012;72:175–183
59. Am J Human Genetics 2013; Online April
60. Mov Disord 2013 Apr 22
61. JAMA Neurol 2013; Online April, Am J Human Genet 2017: Online July
62. NEJM 2013;369:1904-1914
63. Orphanet 2014; Online January, Neurology 2022 Jul 18
64. European Journal of Neurology 2014;21:607–615
65. Parkinsonism Relat Disord 2014 Apr
66. Am J Human Genet 2014; Online July
67. J Med Genet 2014 Jul 25
68. Neurology 2015;84:251–258, Brain 2022 May 6
69. Am J Human Genet 2015; Online Oct
70. Mov Disord 2015;30:284-286
71. Am J Human Genet 2016 Online Apr: A; B
72. Am J Human Genet 2016 Online June, J Peripher Nerv Syst 2020 Aug 18
73. J Mov Disord 2016;9:129-135
74. J Hum Genet 2016 Nov 10
75. Am J Human Genet 2016: 1, 2, 3; Am J Med Genet A 2021 May 29
76. J Neurol Sci 2017;373:321-328
77. Ann Neurol 2017; Online April
78. Mov Disord 2015;30:262-266
79. Am J Hum Genet 2018 Apr 10
80. Nephron 2018 May 23:1-8
81. Neurology 2018;90:e1842-e1848
82. Am J Hum Genet 2018 Nov 19
83. Ann Clin Transl Neurol 2020 Mar 12
84. Mol Genet Genomic Med 2020 Jul 9;e1314
85. Brain Commun 2020;2(2):fcaa064
86. J Cell Biol 2019;218(5):1686-1705
87. J Clin Neurophysiol 2021 Apr 30
88. Proc Natl Acad Sci U S A 2021 Aug 24
89. EMBO Mol Med 2021 Oct 11;e14095
90. Brain 2021 Nov 11, Mov Disord 2022 May 12
91. Brain Commun 2022 Feb 10
92. Genet Med 2022;24:29-40
93. J Neurol Neurosurg Psychiatry 2022 Aug 25
94. Cell Mol Life Sci 2022;79:526
95. Am J Hum Genet 2022 Dec 1, N Engl J Med 2022 Dec 14, Brain 2023 May 11, J Neurol Neurosurg Psychiatry 2023 Jun 30
96. J Neurol Neurosurg Psychiatry 2020;91:876-878
97. Neuropathology 2023;43:135-142
98. Neuromuscul Disord 2023;33:410-416
99. Mov Disord 2023 May 6
100. Tremor Other Hyperkinet Mov (N Y) 2022;12:21
101. Neurol Genet 2023;9:e200085
102. Brain 2023;146:3162-3171
103. J Mov Disord 2023 Oct 23

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