Ataxia - Phenomenology Atlas
Friedreich Ataxia (FA) and Related Disorders
Video 13.1 (C13c1): Friedreich Ataxia
Myoclonus, square-wave jerks, mild athetosis, sensory ataxia, pes cavus, scoliosis, and progressive loss of ambulation.
Video 13.2 (C13c2): Classic Friedreich Ataxia
Macrosaccadic oscillations, sensory ataxia, dysmetria, Babinski signs, pes cavus, and severe scoliosis.
Video 13.3 (C13c3): Friedreich Ataxia with Macrosaccadic Oscillations
Square-wave jerks, macrosaccadic oscillations, mild limb ataxia, and wheelchair dependence.
Video 13.4 (C13c4): Mild Friedreich Ataxia
Square-wave jerks, mild dysmetria, sensory ataxia, and impaired stance.
Video 13.5 (C13c5): Advanced Friedreich Ataxia
Moderate limb ataxia, severe pes cavus, and inability to walk despite preserved upper-limb function.
Video 13.6 (C13c6): Friedreich Ataxia with Symptomatic Macrosaccadic Oscillations
Oscillopsia, scanning dysarthria, dysmetria, and wheelchair dependence.
Video 13.7 (C13c7): Advanced Friedreich Ataxia
Scanning dysarthria, severe sensory ataxia, dysmetria, and marked pes cavus.
Video 13.8 (C13c8): Late-Onset Friedreich Ataxia (LOFA)
Scanning dysarthria, titubation, appendicular ataxia, areflexia, and Babinski signs.
Video 13.9 (C13c9): Late-Onset Friedreich Ataxia
Prominent macrosaccadic oscillations, severe dysmetria, pes cavus, and pyramidal signs.
Video 13.10 (C13c10): Very Late-Onset Friedreich Ataxia (VLOFA)
Spastic ataxic gait with Babinski signs and mild cerebellar dysfunction.
Ataxia-Telangiectasia (AT)
Video 13.11 (C13c11): Mild Ataxia-Telangiectasia
Dysarthria with relatively preserved coordination and ambulation.
Video 13.12 (C13c12): Ataxia-Telangiectasia with Oculomotor Apraxia
Conjunctival telangiectasias, oculomotor apraxia, dysmetria, and multifocal myoclonus.
Video 13.13 (C13c13): Ataxia-Telangiectasia with Action Myoclonus
Prominent oculomotor apraxia and levetiracetam-responsive myoclonus.
Ataxia with Vitamin E Deficiency (AVED)
Video 13.14 (C13c14): AVED
Head titubation, subtle ataxia, and task-specific dystonia while writing.
Video 13.15 (C13c15): AVED with Tremor
Scanning dysarthria, head tremor, dystonic posturing, and gait ataxia.
Video 13.16 (C13c16): AVED
Sensory loss, spooning, dysmetria, and sensory-cerebellar gait ataxia.
Cerebrotendinous Xanthomatosis (CTX)
Video 13.17 (C13c17): CTX
Mild cerebellar ataxia associated with Achilles tendon xanthomas.
Video 13.18 (C13c18): CTX with Jaw-Opening Dystonia
Progressive cerebellar syndrome with dystonia improved by sensory tricks and treatment.
Video 13.19 (C13c19): CTX with Cognitive Dysfunction
Ataxia and cognitive impairment improving substantially after treatment.
Video 13.20 (C13c20): CTX with Marked Tendon Xanthomas
Large hand and Achilles xanthomas without significant neurologic dysfunction.
Ataxia with Oculomotor Apraxia (AOA)
Video 13.21 (C13c21): Ataxia with Oculomotor Apraxia
Scanning dysarthria, vertical-predominant oculomotor apraxia, and cerebellar ataxia.
PNPLA6-Associated Ataxia
Video 13.22 (C13c22): PNPLA6 Ataxia (Severe Phenotype)
Scanning speech, hypermetric saccades, titubation, dysmetria, and wide-based gait.
Video 13.23 (C13c23): PNPLA6 Ataxia with Hypogonadism
Ataxia, absent OKNs, gynecomastia, and testicular atrophy.
Video 13.24 (C13c24): PNPLA6 Ataxia
Titubation, square-wave jerks, hypermetric saccades, osteoarthritis, and gait ataxia.
Spinocerebellar Ataxia Type 1 (SCA1)
Video 13.25 (C13c25): SCA1
Titubation, staring appearance, dysmetria, hypertonia, and pontocerebellar atrophy.
Video 13.26 (C13c26): SCA1 with Slow Saccades
Scanning speech, slowed saccades, hyperreflexia, and severe gait ataxia.
Video 13.27 (C13c27): Advanced SCA1
Severe dysarthria, muscle wasting, saccadic initiation failure, and inability to bear weight.
Spinocerebellar Ataxia Type 2 (SCA2)
Video 13.28 (C13c28): SCA2
Selective slowing of horizontal saccades with mild cerebellar ataxia.
Video 13.29 (C13c29): SCA2 with Round-the-House Saccades
Horizontal saccade slowing, spooning, and limb dysmetria.
Video 13.30 (C13c30): SCA2 with Jaw-Opening Dystonia
Cerebellar ataxia complicated by speech-induced cranial dystonia responsive to sensory trick.
Spinocerebellar Ataxia Type 3 (SCA3 / Machado-Joseph Disease)
Video 13.31 (C13c31): Mild SCA3
Minimal ocular motor abnormalities with moderate gait ataxia.
Video 13.32 (C13c32): SCA3
Mild cerebellar syndrome with severe gait impairment.
Video 13.33 (C13c33): Progressive SCA3
Progressive ataxia with worsening dysarthria, gait dysfunction, and MRI atrophy.
Video 13.34 (C13c34): SCA3 with Parkinsonian Features
End-gaze nystagmus, ocular overshoot, and levodopa-responsive gait slowing.
Video 13.35 (C13c35): Advanced SCA3
Severe dysarthria and profound appendicular ataxia.
Video 13.36 (C13c36): SCA3 with Spasticity
Round-the-house saccades, bradykinesia, ankle clonus, and spastic ataxic gait.
Video 13.37 (C13c37): SCA3 with Pyramidal Features
Ocular dysmetria, hyperreflexia, and spastic wide-based gait.
Video 13.38 (C13c38): Advanced SCA3
Profound gait ataxia requiring two-person assistance.
Spinocerebellar Ataxia Type 6 (SCA6)
Video 13.39 (C13c39): SCA6
Predominantly pure cerebellar ataxia with cerebellar atrophy.
Spinocerebellar Ataxia Type 7 (SCA7)
Video 13.40 (C13c40): Advanced SCA7
Scanning dysarthria, horizontal saccade slowing, dysmetria, and severe gait ataxia.
Video 13.41 (C13c41): SCA7
Moderate gait ataxia with crutch dependence.
Video 13.42 (C13c42): SCA7 with Nystagmus
Upbeat and gaze-evoked nystagmus with cerebellar gait disorder.
Spinocerebellar Ataxia Type 8 (SCA8)
Video 13.43 (C13c43): SCA8
Slow repetitive movements and moderate gait ataxia despite relatively preserved targeting.
Spinocerebellar Ataxia Type 17 (SCA17)
Video 13.44 (C13c44): SCA17
Mild cerebellar ataxia with preserved eye movements.
Video 13.45 (C13c45): SCA17 with Myoclonus
Risor sardonicus, cerebellar ataxia, mini-myoclonus, and marked cerebellar atrophy.
Alexander Disease
Video 13.46 (C13c46): Adult-Onset Alexander Disease
Palatal myoclonus, mild cerebellar ataxia, and the characteristic MRI “tadpole sign.”
CANVAS
Video 13.47 (C13c47): CANVAS (Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome)
Chronic cough, vestibular areflexia, sensory ataxia, and visual compensation during gait.
Post-Infectious and Autoimmune Ataxias
Video 13.49 (C13c49): Post-Infectious Cerebellitis with Myoclonus
Positive and negative myoclonus superimposed on mild cerebellar ataxia.
Video 13.50 (C13c50): Post-Infectious Opsoclonus-Myoclonus-Ataxia Syndrome (OMAS)
Opsoclonus, action myoclonus, and ataxia resolving with immunotherapy.
Video 13.51 (C13c51): Anti-GAD Cerebellar Ataxia
Progressive scanning dysarthria and severe gait instability.
Video 13.52 (C13c52): Advanced Anti-GAD Cerebellar Ataxia
Severe appendicular and gait ataxia with inability to stand independently.
Video 13.53 (C13c53): Para-Infectious OMAS
Florid opsoclonus, myoclonus, and ataxia with complete treatment response.
Video 13.54 (C13c54): Post-COVID OMAS
Ocular flutter, mild myoclonus, and cerebellar gait ataxia.
Video 13.55 (C13c55): Para-Infectious OMAS (Recovery Phase)
Resolving ocular flutter, action myoclonus, and gait instability.
Paraneoplastic Cerebellar Syndromes
Video 13.56 (C13c56): Anti-Yo Cerebellar Degeneration
Scanning dysarthria, tremor, dysmetria, and severe gait ataxia.
Video 13.57 (C13c57): Advanced Anti-Yo Cerebellar Degeneration
Head tremor, severe cerebellar dysarthria, and appendicular ataxia.
Video 13.58 (C13c58): Paraneoplastic Cerebellar Degeneration
Severe titubation, cerebellar tremor, and inability to ambulate independently.
Video 13.59 (C13c59): Cerebellar (Holmes-Type) Tremor in Paraneoplastic Disease
Severe unilateral proximal tremor with marked target impairment.
Acquired Cerebellar and Brainstem Disorders
Video 13.60 (C13c60): Multiple Sclerosis with Cerebellar Tremor
Bilateral wing-beating tremor, dysmetria, and titubation.
Video 13.61 (C13c61): Midbrain Hemorrhage with Oculopalatal/Cerebellar Tremor Syndrome
Continuous head tremor, oscillopsia, adduction deficits, and limb cerebellar tremor.
Video 13.62 (C13c62): Lateral Medullary (Wallenberg) Syndrome
Ipsilateral Horner syndrome, limb ataxia, body lateropulsion, and palatal weakness.
Video 13.63 (C13c63): Periodic Alternating Nystagmus from Chiari I Malformation
Alternating direction-changing nystagmus with mild cerebellar syndrome.
Video 13.64 (C13c64): Superficial Siderosis
Severe sensory-vestibular ataxia with marked dependence on visual input.
Video 13.65 (C13c65): Post-Chemotherapy Cerebellar Toxicity
Mild pediatric cerebellar syndrome with subtle gait ataxia.
Video 13.66 (C13c66): Carbamazepine Toxicity
Multidirectional gaze-evoked nystagmus with mild cerebellar limb ataxia.