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Phenomenology Not to Be Missed Video Cases from India Presenters Phenomenology not to be missed Video cases from India Presenters Vikram V Holla Discussant Assistant Professor of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS) Pramod Kumar Pal Professor of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS) Shweta Prasad PhD Scholar, Clinical Neurosciences National Institute of Mental Health and Neurosciences (NIMHANS) • Several disorders have subtle, and specific findings and the ability to identify them is an important skill • These clues in combination with other findings may often aid in narrowing differentials and choosing appropriate, targeted investigations History Examination Investigations Diagnosis Ataxia: Eyeing the diagnosis The many faces of dystonia Diagnosing myoclonus: Not always a jerky road Ataxia: Eyeing the diagnosis Case 1 • 31/F • Difficulty walking – 11 years • Swaying to either side • Difficulty walking in narrow passages • Broad based gait • Needs support to walk • No worsening in the dark or with eyes closed • Slurring of speech – 9 years • Involuntary movements of upper limbs – 8 years • Difficulty reaching towards objects • Strong autosomal dominant family history • Anticipation present Slow saccades Investigations Cerebellar atrophy SCA2 CAG repeat expansion – ATXN2 Spinocerebellar ataxia type 2 • Most common autosomal dominant SCA in India • CAG repeat expansion (>35) in ataxin-2 gene on chromosome 12 • Age at onset – around 30 years • May resemble SCA1, SCA3 – other common SCA’s • Presence of slow saccades early in the disease • Peripheral neuropathy with generalized areflexia may point to SCA2 • Other features – dystonia, dopa-responsive parkinsonism, cognitive decline Case 2 • 25/M • Unsteadiness while walking – 2 years • Swaying to either side • Tendency to fall to either side • Broad based gait • No worsening in the dark or with eyes closed • Lack of clarity of speech – 1 year • Change in handwriting – 8 months • Strong autosomal dominant family history Downbeat nystagmus at primary gaze Perverted head-shaking nystagmus Investigations SCA6 Cerebellar atrophy CAG repeat expansion – CACNA1A Spinocerebellar ataxia type 6 • ADCA – Type III (Anita Harding) – Pure cerebellar ataxia • Age of onset: 40-60 • Occasional minor pyramidal signs • Downbeat nystagmus at primary gaze • Can have positional vertigo • Have a slower progression and is often compatible with normal lifespan • CAG expansion in the gene CACNA1A • Familial hemiplegic migraine-1, EA2 are allelic – same gene involvement • No anticipation Case 3 • 50/F • Difficulty walking – 9 months • Unsteadiness of gait • Tendency to sway to either side • Slowness of activities – 8 months • Reduced interaction with family members – 8 months • Forgetfulness – 7 months • Episodes of fearfulness with impaired awareness – 4 months • Recently detected insulin dependent diabetes mellitus • Past history of Carcinoma breast • 5 years prior to onset of current symptom • Had undergone total excision with postoperative 6 monthly adjuvant chemotherapy for 3.5 years Spontaneous downbeating nystagmus Investigations • EEG: Right temporal spike wave discharges • Serum paraneoplastic antineuronal antibody panel: High titers of Anti GAD65 Left Insular hyperintensity (FLAIR) with increased uptake (FDG-PET) Anti GAD ataxia • Antibodies to glutamic acid decarboxylase – Reduced GABA production • Usually middle aged-women • Can cause array of autoimmune-related neurological conditions • Limbic encephalitis • Epilepsy • Stiff person syndrome • Cerebellar ataxia • Slowly progressive ataxia in months or years • Spontaneous downbeating nystagmus can be a clue to underlying anti-GAD antibody in suspected autoimmune ataxia • Insulin dependant diabetes, hypothyroidism, pernicious anaemia may be accompanied • Or can be paraneoplastic – breast carcinoma, SCLC, Colon cancer • Early diagnosis lead to early immunotherapy (steroid pulse, IVIG, LVPP etc) can result in good recovery and outcome Case 4 • 24/F • Symptomatic since childhood • Global developmental delay • Behavioral disturbances • Unsteadiness while walking • Lack of clarity of speech – slurring with low volume • Abnormal posturing of hands, feet and neck • Recent onset seizures • Suggestive of autosomal recessive inheritance • Both affected siblings symptomatic since infancy Alternate skew deviation Investigations • Molar tooth sign (thick arrow), deep interpeduncular fossa (thin arrow) • Colour coded FA map shows horizontally oriented superior cerebellar peduncle and absence of normal decussating horizontal fibres Joubert Syndrome Joubert Syndrome • Ciliopathy with over 30 causative genes • Hypotonia in infancy • Molar tooth sign on brain imaging • Developmental delay • Ataxia occurs later in the illness • Ocular abnormalities in JS: • Congenital oculomotor apraxia • Ocular tilt reaction • Alternate skew deviation • Strabismus, nystagmus, ptosis, coloboma and retinopathy • Abnormal breathing pattern • Facial dysmorphism Romani M, et al. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. The Lancet Neurology. 2013 Sep 1;12(9):894-905. Summary • Slow saccades & Gaze palsy: SCA2, SCA3, SCA7 • Downbeat nystagmus: SCA6, anti- GAD ataxia, EA2, ACM • Alternate skew deviation: Joubert syndrome SCA2- Slow saccades Hypermetric saccades Pendular nystagmus- • Hypermetric saccades: SCA1, SCA3, Pelizaeus-Merzbacher SCA8 • Oculomotor apraxia: AT, AOA1, AOA2 • Square wave jerks: FA • Vertical gaze palsy: Niemann-Pick disease • Opsoclonus: Opsoclonus-myoclonus- ataxia syndrome Oculomotor apraxia - AOA Vertical gaze palsy Opsoclonus-myoclonus Niemann-Pick disease The many faces of dystonia Balint B, et al. Dystonia. Nature reviews Disease primers. 2018 Sep 20;4(1):1-23. Case 1 • 15/ M • Progressive difficulty speaking – 5 years • Abnormal posturing of right lower limb – 5 years • Gradual involvement of right upper limb, left upper limb, neck and trunk over next 6 months • Difficulty walking – 3 years • Episodic spasms involving trunk and limbs – 1 year Kayser–Fleischer ring Facial dystonia – Vacuous smile Investigations •Serum Ceruloplasmin: 2.2 mg/dL (15-35 mg/dL ) •Serum Copper: 28 µg/dL (70-150 µg/dL) •24 hour urinary copper: 98 µg/24 hr(<70 µg/24 hr) Giant panda Miniature panda Double panda sign Wilson’s disease • Inherited disorder of copper metabolism • Homozygous or compound heterozygous mutations in ATP7B • Childhood to early adulthood • Can have dystonia, tremor, parkinsonism, and cerebellar signs • Neuropsychiatric manifestations may occur prior to motor symptoms • Typical Wilson facies: factitious smile, pseudolaughter, open mouth, dull look, and staring expression. Członkowska A, et al . Wilson disease. Nature reviews Disease primers. 2018 Sep 6;4(1):1-20. Aggarwal A, Bhatt M. Update on Wilson disease. Int Rev Neurobiol 2013;110:313-48. Case 2 • 17/M • First born of a non-consanguineous parentage • Symptomatic since age 4 • Speech disturbances • Facial and perioral twitching movements also noticed, worsen while talking • Difficulty walking • Posturing of bilateral upper limbs, has difficulty holding objects • Has difficulty swallowing and need to tilt the head back to swallow • Autosomal recessive inheritance Predominant facial dystonia Dragging of angles of mouth Significant speech impairment Investigations • T2 FLAIR image showing bilateral posterior putaminal volume loss, hyperintensity (black arrow), and mineralization of bilateral globus pallidus • Susceptibility-weighted imaging showing characteristic wishbone pattern of iron deposition in the medial and lateral parts of the globus pallidus (white arrow) Investigations GM1 gangliosidosis type III GM1 gangliosidosis type III • Lysosomal storage disorder • Deficiency of ß-galactosidase; Mutations in GLB1 • Type 1: • Infantile onset/ Rapidly progressive with hypotonia/ Severe CNS degeneration • Death by 1–2 years of age • Type 2: • Infantile or juvenile (7 m / 3 years) • Slower progression • Type 3: • Progressive extrapyramidal disorder • Generalized dystonia • Early speech impairment (97%) and striking facial dystonia (90%) Muthane U, et al. Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases. Movement disorders: official journal of the Movement Disorder Society. 2004 Nov;19(11):1334-41. Case 3 • 13/F • Third born of a third degree consanguineous parentage • Symptomatic since age 7 • Speech disturbances • Abnormal posturing of mouth • Progressive posturing of limbs • Difficulty walking • Behavioral disturbances • Decreased vision in the dark Retinitis pigmentosa Oromandibular dystonia Mantis sign Investigations Eye of tiger appearance Globus pallidus mineralization Pantothenate Kinase-Associated Neurodegeneration • Classic phenotype of PKAN results from mutations in the PANK2 gene • Early‐onset generalized dystonia • Prominent oromandibular involvement • Dystonic jaw opening or jaw closing • Anarthria • Severe dysphagia • “Mantis sign”: geste antagoniste to alleviate oromandibular dystonia • Can also have parkinsonism, spasticity and retinitis pigmentosa • MRI: Classic “eye of tiger” appearance on T2W images Petrović IN et al. Characteristic “forcible” geste antagoniste in oromandibular dystonia resulting from pantothenate kinase‐associated neurodegeneration. Movement disorders clinical practice. 2014 Jun;1(2):112-4. Case 4 • 13/F • First born of second degree consanguineous parentage • Symptomatic since 2 months of age • Global developmental delay • Abnormal posturing of mouth • Progressive abnormal posturing of
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