Neuronal Mechanisms of Spino-Cerebellar Ataxia Type 27

Cellular Transplantation May Modulate Disease Progression in Spino-cerebellar Ataxia – a Case Report

Major Depressive Disorder - A co-morbid condition in a case of spino-cerebellar ataxia with writer's cramp

The psychiatric manifestrations are 77% in patients with degenerative cerebellar diseases. The most common diagnoses are depressive disorders, personality changes and cognitive impairment. Here we report a case of major depressive disorder in a patient with spinocerebellar ataxia with writer's cramp.

Neuropathology of some hereditary conditions affecting central and peripheral nervous system.

Neuropathology plays a crucial role in the phenotypic individualization of hereditary disorders affecting the central and peripheral nervous system even if molecular genetics represents the most essential step in describing the genotypes. The neuropathological description of phenotypes and genotypes can be used for refining clinical skills and understanding many clinical, neurophysiological and...

Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release.

Heterozygous mutations of KCNA1, the gene encoding potassium channel Kv1.1 subunits, cause episodic ataxia type 1 (EA1), which is characterized by paroxysmal cerebellar incoordination and interictal myokymia. Some mutations are also associated with epilepsy. Although Kv1.1-containing potassium channels play important roles in neuronal excitability and neurotransmitter release, it is not known h...

P102: The Association of the Anti-GAD Antibodies to the Neurological Conditions

Glutamic acid decarboxylase (GAD) is an enzyme which converts the glutamic acid to the neurotransmitter gamma-amino butyric acid (GABA). GABA is an inhibitory neurotransmitter that inhibits or weakens the neuronal stimulations. Presynaptic GABAergic neurons in the central neurons system (CNS) and the cells in the islets of Langerhans in the pancreas generate GAD. There are two isoforms of GAD n...