Cerebellar syndrome

Extrapyramidal syndrome Cerebellar syndrome, visual dysfunction, encephalopathy, CNS teratogenicity Peripheral neuropathy, encephalopathy Encephalopathy, neuronopathy (trimethyltin) leukoencephalopathy, vacuolar myelinopathy (triethyltin) Peripheral neuropathy, optic neuropathy Peripheral neuropathy Acute, chronic encephalopathy, CNS teratogenicity (fetal alcohol syndrome) Peripheral neuropathy Optical neuropathy... 

Cholinergic syndrome Cerebellar syndrome, tremors Seizures... 

Fetal phenytoin syndrome cerebellar syndrome (ataxia, nystagmus) chronic encephalopathy (cognitive dysfunction) extrapyramidal syndrome (chorea, dyskinesia) peripheral neuropathy Acute encephalopathy (sedation, coma) chronic encephalopathy (cognitive dysfunction)... 

Lalowski M, Golabek A, Lemere CA, Selkoe DJ, Wisniewski HM, et al. 1996. The nonamyloidogenic p3 fragment (amyloid betal7-42) is a major constituent of Down s syndrome cerebellar preamyloid. J. Biol. Chem. 271 33623-31... 

Deletion Point mutation trna Diabetes, Fanconi syndrome Cerebellar ataxia, hypogonado-trophic hypogonadism, choroidal dystrophy... 

PTEN Cowden disease, Bannayan-Riley-Ruvalcaba syndrome, Proteus syndrome, Lhermitte-Duclos disease overgrowths of various organs, hamartomas of the skin, mucosa, cerebellar cortex high risk of developing several types of cancer. Spontaneous pten mutations found frequently in human cancers... 

Leigh s syndrome (subacute necrotizing encephalomyelopathy) is characterized by a variable combination of clinical abnormalities including cerebellar ataxia, developmental delay, mental regression, deafness, optic atrophy, hypotonia, and... 

Myoclonic epilepsy with ragged-red fibers (MERPF) is a rare syndrome which shows clear maternal inheritance and a variable clinical pattern including progressive myoclonus, cerebellar ataxia, dementia, and muscle weakness. It is associated with an A-to-G transition at position 8344 of the tRNA Lys gene in the mtDNA. The mutation is heteroplasmic and produces similar multicomplex deficiencies as are seen in KSS. 

Polakowska B, Byczkowska Z. 1991. Cerebellar syndrome after long-term exposure to organic solvents. Case report. Med Pr 42 355-359. 

Glutaric acidurias Type I Primary defect of glutarate oxidation Type II Defect of electron transfer flavoprotein Type I Severe basal ganglia/cerebellar disease with macrocephaly. Onset 1-2 years Type II Fulminant neurological syndrome of the neonate. Often with renal/hepatic cysts. Usually fatal Diet low in lysine and tryptophan Supplementation with coenzyme Q, riboflavin, carnitine... 

Patients with sialidosis show a striking syndrome characterized by action myoclonus, cerebellar ataxia and a macular cherry red spot similar to that in Tay-Sachs disease but with preserved intellect. 

Physical signs include coarse skin and hair, cold or dry skin, periorbital puffiness, bradycardia, and slowed or hoarse speech. Objective weakness (with proximal muscles being affected more than distal muscles) and slow relaxation of deep tendon reflexes are common. Reversible neurologic syndromes such as carpal tunnel syndrome, polyneuropathy, and cerebellar dysfunction may also occur. 

Figure 3. The many ways to lose a HAT. Decreased amounts of functional CBP protein and subsequent CBP s loss of function has been observed in different contexts of neurological disorders and neuronal apoptosis. RTS (Rubinstein-Taybi Syndrome) results from a mutation on one cbp gene allele. In several cases of polyQ diseases, CBP can be sequestred by the mutated polyQ proteins, forming aggregates in the cytoplasm or the nucleus. CBP proteasomal degradation was also shown to be favored by polyQ proteins. CBP is a caspase-6 substrate in cerebellar granule neurons (CGN) deprived of potassium modeling caspase-dependent apoptosis. Finally, cbp gene repression has been observed in oxidative stress-induced death of a motomeuronal cell line. The mechanisms by which CBP levels are reduced in motomeurons of ALS mice is still unknown...

Boder E, Sedgwick RP (1958) Ataxia-telangiectasia a familial syndrome of progressive cerebellar ataxia, oculocutaneous telangiectasia and frequent pulmonary infection. Pediatrics 21(4) 526-554 Brown EJ, Baltimore D (2003) Essential and dispensable roles of ATR in cell cycle arrest and genome maintenance. Genes Dev 17(5) 615-628... 

Accelerated apoptotic cell death has been observed in many neurodegenera-tive diseases such as Alzheimer s disease (K7), Huntington disease (W9), amyotrophic lateral sclerosis (K12), cerebellar degeneration (T4), neuron degeneration in Down s syndrome (B16), Parkinson s disease (J1), and retinitis pigmentosa (R1). 

Of particular importance in the geriatric patient Case reports of organic brain syndrome, cognitive impairment, ataxia, cerebellar dysfunction, AV block, edema, tremor, renal impairment, nephrogenic diabetes insipidus, urinary frequency, hypothyroidism, leukocytosis, weight gain... 

Malignancies, particularly of neural crest origin, are known to affect brain function adversely through remote (presumably hormonal) effects on neural tissue. For example, ovarian adenocarcinoma can selectively induce a profound cerebellar syndrome caused by the selective death of Purkinje cells (presumably from a neurotoxic hormonal factor). Such phenomena simply illustrate the complicated nature of CNS functioning and the need to be cautious about explanations in the absence of systematic data. 

Other neurological syndromes (e.g., cerebral cortical atrophy, myopathy, cerebellar degeneration) are also associated with alcoholism, but their pathogenesis is less certain than that of nutritional deficiency disorders. Abstinence from alcohol plus vitamin replacement and physical therapy comprise the standard treatment approach for these conditions. 

Central and/or peripheral nervous system involvement is one of the most frequent features, often resulting in the neonatal period in drowsiness, poor sucking, severe hypotonia, abnormal movements, seizures, respiratory distress, and fatal keto-acidotic coma with lactic acidosis [3]. To these severe conditions echo late-onset diseases now frequently attributed to or associated with mitochondrial OXPHOS defects, such as Alzheimer s or Parkinsons disease [10]. Major neurological symptoms, in variable combinations, involve trunk hypotonia, cranial nerve and brainstem involvement (with abnormal eye movements, ophthalmoplegia, recurrent apneas), cerebellar ataxia, myoclonia, seizures, pyramidal syndrome, peripheral neuropathy, poliodystrophy, and leukodystrophy infections [27,28]. A diffuse impairment of the cerebral white matter (leukodystrophy) mostly results in motor disturbance with mental retardation and low incidence of seizures. 

Kearns-Sayre syndrome [17] A multisystem disorder characterized by the invariant triad onset before age 20 years, PEO, pigmentary retinal degeneration plus at least one of the following complete heart block, cerebrospinal fluid protein above 100 mg/dl, cerebellar ataxia. Large-scale heteroplasmic mitochondrial DNA deletions are frequently detected in skeletal muscle (rarely in other tissues). 

It is well established that mitochondrial function defects are not severe until the proportion of mutant mtDNA reaches a high level, which forms the basis of the concept of the threshold effect. In skeletal muscle, the level of the A3243G mutation is related to the severity of strokelike episodes, epilepsy, and dementia in patients with MELAS syndrome (C6, H14, PI). Similarly, the level of the A8344G mutation is correlated with the degree of cerebellar ataxia and myoclonus in patients with MERRF syndrome (C6). Thus, molecular genetic analysis of mtDNA mutations in muscle biopsies usually provides more definitive diagnosis of... 

Cerebellar Cognitive Affective Syndrome Jeremy D. Schmahmann and Janet C. Sherman... 

Neuropsychological Abnormalities in Cerebellar Syndromes—Fact or Fiction ... 

Intracranial atherosclerotic VA obstruction is mainly located at the origin of the posterior inferior cerebellar artery (PICA) and less frequent at the site of dura penetration. Consequently the most frequent clinical syndrome in VA occlusive disease is the dorsolateral medullary syndrome ( Wallenberg s syndrome) consisting of dizziness, retroorbital pain, facial numbness, dissociated sensory deficit, weakness, hoarseness, dysphagia and vomiting, nystagmus, Horner s syndrome and failure of autonomic respiration (Vuilleumier et al. 1995). 

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