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L'atassia (dal greco ataxi, disordine) un disturbo consistente nella progressiva perdita della coordinazione muscolare che quindi rende difficoltoso eseguire i movimenti volontari. Il centro della coordinazione dei movimenti muscolari il cervelletto che elabora gli impulsi portati ai muscoli dal midollo spinale e dai nervi periferici. L'atassia pu quindi essere provocata da problemi sia a livello del midollo spinale che a livello dei nervi periferici. Le conseguenze si manifestano con la mancanza di coordinazione fra tronco e braccia, tronco e capo, ecc. Vi sono inoltre dei disturbi associati, quali incoordinazione dei movimenti dell'occhio, incontinenza, difficolt di deglutizione e movimenti involontari di arti, capo e tronco.
LATASSIA PUO INTERESSARE QUALSIASI SEGMENTO CORPOREO Arti superiori Arti inferiori Tronco Atassia del gesto Atassia della marcia Atassia posturale
CORRELAZIONE ANATOMOCLINICA
Sindrome Emisferica Atassia degli arti Tremore Ipotonia Disartria N.B.: i segni sono ipsilaterali alla lesione Eziologia, ex.: Ictus cerebri (SCA) Neoplasie
Associated cancer
syndromes Anti-Yo (PCA-1)
(ANNA-1)
SCLC
Other paraneoplastic
Gynaecological, breast..Anti-Hu
PEM, PSN, Anti-Tr, Hodgkin's lymphoma..
Anti-Ri (ANNA-2) SCLC, gynaecological, breast, Opsoclonus myoclonus syndr Anti-mGluR1 Anti-CV2 (CRMP5) Anti-ZIC4 Anti-VGC Hodgkin's lymphoma. SCLC, thymoma, PEM SCLC.. SCLC LEMS
ANNA-1/2=anti-neuronal nuclear antibody type 1/2. CRMP5=collapsin response mediator protein 5. LEMS=LambertEaton myasthenic syndrome. mGluR1=metabotropic glutamate receptor type 1. PCA1=Purkinje cell antibody type 1. PEM=paraneoplastic encephalomyelitis. PSN=paraneoplastic sensory neuropathy. SCLC=small-cell lung cancer. VGCC=voltage-gated calcium channel. ZIC4=zinc finger protein 4.
G. Holmes G. Seitelberger
N. Friedreich
Anita Harding
Cerebellar ataxias
Gene changes regulating storage or levels of brain metabolites becaming toxic to cerebellar cells (Metabolic ataxias with different age of onset) Abnormalities in homeobox genes regulating cerebellar development (Congenital ataxias) Activation of genes leading to neurodegeneration and apoptosis (Degenerative ataxias)
Atrofia cerebellare
Dominant ataxia
? FRATASSINA
?
OMEOSTASI DEL FERRO
?
STRESS OSSIDATIVO
Atassia di Friedreich
Electrophysiological and nerve biopsy: comparative study in FA and in FA with vitamin E deficiency Zouari et al. Neuromusc. Disord. 8: 416-425, 1998
Nella FA vi una grave e precoce neuronopatia periferica assonale, caratterizzata da una importante riduzione di ampiezza dei potenziali di azione sensitivi ed una importante perdita delle fibre mieliniche con completa scomparsa delle grosse fibre mieliniche senza alcun processo rigenerativo Nel deficit di vitamina E vi una neuropatia sensitiva assonale pi lieve, con modesta perdita delle fibre mieliniche e presenza di rigenerazione Grave alterazione dei somatosensoriali in ambedue potenziali evocati
Acanthocytes
A-beta-lipopoproteinemia Atassia Neuropatia periferica Retinopatia Acantocitosi Malassorbimento dei grassi Abetalipoproteinemia Deficit di vitamina E Mutazione nel gene della proteina transfer microsomale dei trigliceridi o mutazioni nel gene dell apolipoproteina B
Ataxia-teleangiectasia
Autosomal recessive inheritance Conjunctival Teleangiectasias, gaze nystagmus, Bronchitis, bronchiectasias Hypogonadism, impaired spermatogenesis Cutaneous teleangiectasia, caf-au-lait-spots, progeric skin changes, sclerodermatous skin changes
Ataxia teleangiectasia
Ataxia Telangiectasia Choreoathetosis Ocular apraxia
Peripheral neuropathy Mutation in AT gene, encoding a protein Frequent bronchitis with a putative Lymphoproliferative phosphatidylinositoldisorders 3-kinase domain
Refsum disease Cerebellar signs with ataxia Chronic polyneuritis Anosmia Cardiac changes (ECG alterations, congestive hearth failure) Neurosensorial deafness Ichthyosis Pigmentary rethynopathy Phytanic acid accumulation Phytanic acid oxidase deficiency Good response with a diet
Co Q deficiency
Autosomal recessive disorder with a encompasses several main phenotypes:
clinical
spectrum
that
a myopathic form, with myoglobinuria, epilepsy and ataxia a severe infantile syndrome with encephalopathy and renal disease an ataxic form presenting with cerebellar atrophy a neonatal presentation with fatal evolution Leigh syndrome in adulthood liver failure plus Leigh syndrome Variable degree of CoQ deficiency in muscle and/or fibroblasts causing decreased activities of NADH:cit c oxidoreductase and succinate:cit c oxidoreductase of the MRC. Treatment response has been remarkable in most cases, highlighting the importance of an early diagnosis of these disorders.
Electron microscopy examination of muscle biopsy, which showed the presence of an important subsarcolemmic mitochondrial accumulation.
Effect of CoQ supplementation and evaluation of ICARS scale and plasma CoQ concentration over 16 months of follow-up in case 1. Above columns, plasma CoQ concentrations (mol/L) and doses applied (mg/day in brackets) are stated. A write test was also performed, showing a clear improvement after CoQ supplementation.
Joubert syndrome
Joubert syndrome (JS) and related disorders (JSRD) are a group of developmental delay/multiple congenital anomalies syndromes in which the obligatory hallmark is the molar tooth sign (MTS), a complex midbrainhindbrain malformation visible on brain imaging, first recognized in JS. Estimates of the incidence of JSRD range between 1/80,000 and 1/100,000 live births, although these figures may represent an underestimate. The neurological features of JSRD include hypotonia, ataxia, developmental delay, intellectual disability, abnormal eye movements, and neonatal breathing dysregulation. These may be associated with multiorgan involvement, mainly retinal dystrophy, nephronophthisis, hepatic fibrosis and polydactyly, with both inter- and intra-familial variability. JSRD are classified in six phenotypic subgroups: Pure JS; JS with ocular defect; JS with renal defect; JS with oculorenal defects; JS with hepatic defect; JS with orofaciodigital defects. With the exception of rare Xlinked recessive cases, JSRD follow autosomal recessive inheritance and are genetically heterogeneous. Ten causative genes have been identified to date, all encoding for proteins of the primary cilium or the centrosome, making JSRD part of an expanding group of diseases called "ciliopathies".
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Cantagrel V, et al Am J Hum Genet. 2008 Aug;83(2):170-9.
Atassie nutrizionali
Deficit di tiamina Encefaloneuro-miopatia alcoolica Beri-beri Pellagra
Beri-Beri o Avitaminosi B1
Polineuropatia, atassia Insufficienza cardiaca Aumento della piruvicemia
Episodic ataxia, Vertigo, myotonia, weakness, paresthesias, EEG with paroxysmal activity, atrophy of cerebellar vermis
Episodic ataxia, Vertigo, myotonia, weakness, paresthesias, EEG with paroxysmal activity, atrophy of cerebellar vermis
Sindrome di Marinesco-Sjogren
tti MT et al. MRI findings in Marinesco-Sjogren syndrome. Neuro-Ophthalmol 1994 tti MT et al. Optic atrophy in Marinesco-Sjogren syndrome: an additional ocular feature. phthal Paediatr Genet 1993
S. Marinesco-Siogren
Atassia Cerebellare Ritardo mentale Spasticit Cataratta Congenita, nistagmo, strabismo Ritardo nella crescita e statura bassa Ipogonadismo ipergonadotropo Ipotonia muscolare e miopatia Ereditariet autosomica recessiva
Assunzione di vitamina E