Cerebellar

Kir3.2 Weaver mouse. A mutant mouse with cer ebellar degeneration and motor dysfunction resulting from a serine for glycine substitution in the -GYG- sequence of the K selectivity filter of Kir3.2. G-protein activated K conductances are abolished in the cerebellar neurons, leading to Ca2+ overload and cell death. 

VLDL receptor Loss-of-function (familial, autosomal recessive) Autosomal recessive cerebellar hypoplasia (ataxia, mental retardation)... 

Primary cultured cerebellar granule cells Increase in cytosolic [Ca2+] SR 48692 ... 

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... 

In cerebellar Purkinje cells, a TTX-sensitive inward current is elicited, when the membrane was partially repolarized after strong depolarization. This resurgent current contributes to high-frequency repetitive firing of Purkinje neurons. The resurgent current results from open channel block by the cytoplasmic tail of the (34 subunit. The med Nav 1.6 mutant mice show defective synaptic transmission in the neuromuscular junction and degeneration of cerebellar Purkinje cells. 

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. 

Low K, Crestani F, Keist R, et al Molecular and neuronal substrate for the selective attenuation of anxiety. Science 290 131-134, 2000 Luddens H, Pritchett DB, Kohler M, et al Cerebellar GABAA receptor selective for a behavioural alcohol antagonist. Nature 346 648—651, 1990 LupoloverY, Safran AB, Desangles D, etal Evaluation ofvisual function in healthy subjects after administration of Ro 15-1788. Eur J Clin Pharmacol 27 505-507, 1984 Maher JF, Schreiner GE, Westervelt FB Jr Acute glutethimide intoxication 1. clinical experience (twenty-two patients) compared to acute barbiturate intoxication (sixty-three patients). Am J Med 33 70-82, 1962 Marks J The Benzodiazepines Use, Overuse, Misuse, Abuse. Baltimore, MD, University Park Press, 1978... 

Boor JW, Hurtig HI Persistent cerebellar ataxia after exposure to toluene. Ann Neurol 2 440 42, 1977... 

Fornazzari L, Wilkinson DA, Kapur BM, et al Cerebellar, cortical and functional impairment in toluene abusers. Acta Neurol Scand 67 319—329, 1983 Franks NP, Lieb WR Molecular and cellular mechanisms of general anaesthesia. Nature 367 607-614, 1994... 

Malm G, Lying-Tunell U Cerebellar dysfunction related to toluene sniffing. Acta Neurol Scand 62 188-190, 1980... 

Rosa R, Rodriguez-Farre E, Sanfeliu C. 1996. Cytotoxicity of hexachlorocyclohexane isomers and cyclodienes in primary cultures of cerebellar granule cells. J Pharmacol Exp Ther 278(1) 163-169. 

In patients with ataxia-telangiectasia, an autosomal recessive disease in humans resulting in the development of cerebellar ataxia and lymphoreticular neoplasms, there appears to exist an increased sensitivity to damage by x-ray. Patients with Fanconi s anemia, an autosomal recessive anemia characterized also by an increased frequency of cancer and by chromosomal instability, probably have defective repair of cross-linking damage. 

Bachis A, Mocchetti I (2004) The chemokine receptor CXCR4 and not the N-methyl-D-aspartate receptor mediates gpl20 neurotoxicity in cerebellar granule cells. J Neurosci Res 75(1) 75-82... 

Zou YR, Kottmann AH, Kuroda M, Taniuchi I, Littman DR (1998) Eunction of the chemokine receptor CXCR4 in haematopoiesis and in cerebellar development. Nature 393 595-599... 

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