3 Type 1: The CAG/Polyglutamine Repeat Diseases 9 3.1 Spinal and Bulbar Muscular Atrophy 9 3.2 Huntington’s Disease 12 3.3 Dentatorubral Pallidoluysian Atrophy 15 3.4 Spinocerebellar Ataxia Type 1 16 3.5 Spinocerebellar Ataxia Type 2 18 3.6 Spinocerebellar Ataxia Type 3/Machado–Joseph Disease 19 3.7 Spinocerebellar Ataxia Type 6 21 3.8 Spinocerebellar Ataxia Type 7 22 3.9 Spinocerebellar Ataxia...

Mutations of voltage gated calcium channels are commonly associated with episodic ataxia. There has been no case reports in the literature that describe anon-episodic presentation of ataxia in patients affected with this mutation. This current case report describes a 61-year-old female patient with progressive ataxia and mutations that commonly cause an episodic ataxia. ABBREVIATIONS EA2: Episo...

Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have relatively good understanding the symptom patterns associated with various types ataxia, and how these diseases progress over time, their impact on person ataxia is less well understood. In addition, little known about carers, friends families aff...

Friedreich's ataxia (FRDA) is an inherited, neurodegenerative disease that typically presents in childhood and results progressive gait limb ataxia, with the extraneural features of hypertrophic cardiomyopathy, diabetes scoliosis. The genetic defect a deficiency frataxin protein, which important for mitochondrial function, especially brain heart. Drug development has approached FRDA through pat...

BACKGROUND The small-conductance calcium-activated potassium channel gene (hSKCa3) contains 2 CAG repeats, 1 of which is highly polymorphic. Although this repeat is not pathologically expanded in patients with schizophrenia, some studies have suggested an allelic association with schizophrenia. CAG expansions in other genes such as the alpha1 subunit of a brain-specific P/Q-type calcium channel...

BACKGROUND AND OBJECTIVES Cerebellar ataxia can be induced by a large number of drugs. We here conducted a systemic review of the drugs that can lead to cerebellar ataxia as an adverse drug reaction (ADR). METHODS We performed a systematic literature search in Pubmed (1966 to January 2014) and EMBASE (1988 to January 2014) to identify all of the drugs that can have ataxia as an ADR and to ass...

BACKGROUND Although mentioned in most series, "pure" autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. OBJECTIVE To describe Portuguese families with a peculiar pure form of dominant ataxia that, to our knowledge, has never been documented before and in which cerebellar signs are preceded by spasmodic cough. PATI...

Ataxia telangiectasia is a genetically inherited multisystem disorder with predominant feature being telangiectasia and cerebellar ataxia. In this report, a family of three siblings suffering from ataxia telangiectasia is described. The proband presented with dystonia and dystonic myoclonus, both of which are rare presenting features of ataxia telangiectasia.

OBJECTIVES To assess balance and ability to function in patients with spinocerebellar ataxia. METHODS A total of 44 patients with different spinocerebellar ataxia types 1, 2, 3, and 6 were evaluated using the Tinetti balance and gait assessment and the functional independence measure. The scale for the assessment and rating of ataxia and the international cooperative ataxia rating scale were ...

Wernicke’s encephalopathy (WE) is an acute neurological disorder caused by a deficiency in thiamine. It characterized triad of altered mental status, ataxia and ophthalmoplegia. Most the cases reported were secondary to long-term alcohol use. We rare case WE due hyperemesis gravidarum 29-year-old P1L1A1 women at 22 weeks gestation who had spontaneous abortion. Patient manifested with features c...