Fragile X-associated tremor/ataxia syndrome: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late onset neurodegenerative disorder associated with problems of movement, memory, and the autonomic nervous system. It is related to the disease fragile X syndrome, although FXTAS is a clinically distinct syndrome.Autosomal recessive cerebellar ataxia: Autosomal recessive cerebellar ataxia type 1 (ARCA1) is a condition characterized by progressive problems with movement. Signs and symptoms of the disorder first appear in early to mid-adulthood.International Cooperative Ataxia Rating Scale: The International Cooperative Ataxia Rating Scale (ICARS) is an outcome measure that was created in 1997 by the Committee of the World Federation of Neurology with the goal of standardizing the quantification of impairment due to cerebellar ataxia. The scale is scored out of 100 with 19 items and 4 subscales of postural and gait disturbances, limb ataxia, dysarthria, and oculomotor disorders.Spinocerebellar ataxia type-13: Spinocerebellar ataxia type 13 (SCA13) is a rare autosomal dominant disorder, which, like other types of SCA, is characterized by dysarthria, nystagmus, and ataxia of gait, stance and the limbs due to cerebellar dysfunction. Patients with SCA13 also tend to present with epilepsy, an inability to run, and increased reflexes.Tandem gait: Tandem gait is a gait (method of walking or running) where the toes of the back foot touch the heel of the front foot at each step. Neurologists sometimes ask patients to walk in a straight line using tandem gait as a test to help diagnose ataxia, especially truncal ataxia, because sufferers of these disorders will have an unsteady gait.Ataxia telangiectasia mutated: Ataxia telangiectasia mutated (ATM) is a serine/threonine protein kinase that is recruited and activated by DNA double-strand breaks. It phosphorylates several key proteins that initiate activation of the DNA damage checkpoint, leading to cell cycle arrest, DNA repair or apoptosis.Machado–Joseph diseaseReplication slippage: Replication slippage, otherwise known as slipped-strand mispairing, is a form of mutation that leads to either a trinucleotide or dinucleotide expansion or contraction during DNA replication.Hartl L.Trinucleotide repeat disorder: Trinucleotide repeat disorders (also known as trinucleotide repeat expansion disorders, triplet repeat expansion disorders or codon reiteration disorders) are a set of genetic disorders caused by trinucleotide repeat expansion, a kind of mutation where [repeats in certain gene]s exceed the normal, stable threshold, which differs per gene. The mutation is a subset of unstable [[Microsatellite (genetics)|microsatellite repeats that occur throughout all genomic sequences.Inferior cerebellar peduncle: The upper part of the posterior district of the medulla oblongata is occupied by the inferior cerebellar peduncle (restiform body), a thick rope-like strand situated between the lower part of the fourth ventricle and the roots of the glossopharyngeal and vagus nerves.Neurochondrin: Neurochondrin proteins induces hydroxyapatite resorptive activity in bone marrow cells resistant to bafilomycin A1, an inhibitor of macrophage- and osteoclast-mediated resorption. Expression of the gene is localised to chondrocyte, osteoblast, and osteocyte in the bone and to the hippocampus and Purkinje cell layer of cerebellum in the brain.Pedigree chart: A pedigree chart is a diagram that shows the occurrence and appearance or phenotypes of a particular gene or organism and its ancestors from one generation to the next,pedigree chart Genealogy Glossary -, a part of The New York Times Company.Serine/threonine-specific protein kinaseCerebellar stroke syndromeSilent mutation: Silent mutations are mutations in DNA that do not significantly alter the phenotype of the organism in which they occur. Silent mutations can occur in non-coding regions (outside of genes or within introns), or they may occur within exons.Conjugate gaze palsySherman paradox: The Sherman Paradox refers to an anomalous pattern of inheritance found in Fragile X syndrome. The phenomenon is also referred to as anticipation or dynamic mutation.Oculomotor apraxia: Oculomotor apraxia (OMA), also known as Cogan ocular motor apraxia or saccadic initiation failure (SIF) is the absence or defect of controlled, voluntary, and purposeful eye movement.Tada, M, Yokoseki, A, Sato, T, Makifuchi, T, Onodera, O.DysarthriaDNA-binding proteinOpsismodysplasiaMalformative syndrome: A malformative syndrome (or malformation syndrome) is a recognizable pattern of congenital anomalies that are known or thought to be causally related (VIIth International Congress on Human Genetics).G2-M DNA damage checkpoint: The G2-M DNA damage checkpoint is an important cell cycle checkpoint in eukaryotic organisms ranging from yeast to mammals. This checkpoint ensures that cells don't initiate mitosis before they have a chance to repair damaged DNA after replication.Dyssynergia: Dyssynergia is any disturbance of smooth muscular coordination, resulting in uncoordinated and abrupt movements. It is typical for dyssynergic patients to split a movement into several smaller movements.NystagmusHyperintensityPhenotype microarray: The phenotype microarray approach is a technology for high-throughput phenotyping of cells.Reeler domain: Reeler domain is a protein domain.Parkinson plus syndrome: Parkinson-plus syndromes, also known as disorders of multiple system degeneration, is a group of neurodegenerative diseases featuring the classical features of Parkinson's disease (tremor, rigidity, akinesia/bradykinesia, postural instability) with additional features that distinguish them from simple idiopathic Parkinson's disease. Some consider Alzheimer's disease to be in this group.Iridogoniodysgenesis, dominant type: Iridogoniodysgenesis, dominant type (type 1, IRID1) refers to a spectrum of diseases characterized by malformations of the irido-corneal angle of the anterior chamber of the eye. Iridogoniodysgenesis is the result of abnormal migration or terminal induction of neural crest cells.Missense mutation: In genetics, a missense mutation (a type of nonsynonymous substitution) is a point mutation in which a single nucleotide change results in a codon that codes for a different amino acid. Another type of nonsynonymous substitution is a nonsense mutation in which a codon is changed to a premature stop codon that results in truncation of the resulting protein.Gregor Wenning: Gregor K. Wenning (* born 21st March1964 in Horstmar, Westfalia) is a German Neurologist best known for his clinical and scientific work in Parkinson's disease and atypical Parkinsonian disorders, particularly multiple system atrophy (MSA).Gliadin: Gliadin is a class of proteins present in wheat and several other cereals within the grass genus Triticum. Gliadins, which are a component of gluten, are essential for giving bread the ability to rise properly during baking.TocofersolanPalatal myoclonusCentre for Research in Neurodegenerative DiseasesTesticular atrophy: Testicular atrophy is a medical condition in which the male reproductive organs (the testes, which in humans are located in the scrotum) diminish in size and may be accompanied by loss of function. This does not refer to temporary changes, such as those brought on by cold.Base excision repair: frame|right|Basic steps of base excision repair|Basic steps of base excision repairBenign fasciculation syndrome: Benign fasciculation syndrome (BFS) is a neurological disorder characterized by fasciculation (twitching) of various voluntary muscles in the body. The twitching can occur in any voluntary muscle group but is most common in the eyelids, arms, legs, and feet.Bickerstaff's encephalitisSpinal muscular atrophy with progressive myoclonic epilepsy: Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle wasting (atrophy), predominantly affecting distal muscles, combined with denervation and myoclonic seizures.Genetic linkage: Genetic linkage is the tendency of alleles that are located close together on a chromosome to be inherited together during the meiosis phase of sexual reproduction. Genes whose loci are nearer to each other are less likely to be separated onto different chromatids during chromosomal crossover, and are therefore said to be genetically linked.Primitive reflexes: Primitive reflexes are reflex actions originating in the central nervous system that are exhibited by normal infants, but not neurologically intact adults, in response to particular stimuli. These reflexes are absent due to the development of the frontal lobes as a child transitions normally into child development.List of diseases (S): This is a list of diseases starting with the letter "S".Cousin couple: A cousin couple is a pair of cousins who are involved in a romantic or sexual relationship.Interposed nucleus: The interposed nucleus is a deep nucleus of the cerebellum and is composed of the globose nuclei and the emboliform nuclei. It is located in the roof (dorsal aspect) of the fourth ventricle, lateral to the fastigial nucleus.Early myoclonic encephalopathy: Early myoclonic encephalopathy (EME) is an epilepsy syndrome where myoclonic seizures develop in the neonatal period. After several months, the seizure pattern may develop to infantile spasms (West syndrome).Hyperphosphatasia with mental retardation syndrome: Hyperphosphatasia with mental retardation syndrome, HPMRS, also known as Mabry syndrome, has been described in patients recruited on four continents world-wide. Mabry syndrome was confirmed to represent an autosomal recessive syndrome characterized by severe mental retardation, considerably elevated serum levels of alkaline phosphatase, hypoplastic terminal phalanges, and distinct facial features that include: hypertelorism, a broad nasal bridge and a rectangular face.OphthalmoparesisBerk–Tabatznik syndrome: Berk–Tabatznik syndrome is a condition with an unknown cause that shows symptoms of short stature, congenital optic atrophy and brachytelephalangy. This condition is extremely rare with only two cases being found.Phosphatidylinositol phosphate kinases: Phosphatidylinositol phosphate kinases (PIPK) are kinases that phosphorylate the phosphoinositides PtdInsP and PtdInsP2 that are derivatives of phosphatidylinositol (PtdIns). It has been found that PtdIns is only phosphorylated on three (3,4,5) of its five hydroxyl groups, possibly because D-2 and D-6 hydroxyl groups cannot be phosphorylated because of steric hindrance.Gross pathology: Gross pathology refers to macroscopic manifestations of disease in organs, tissues, and body cavities. The term is commonly used by anatomical pathologists to refer to diagnostically useful findings made during the gross examination portion of surgical specimen processing or an autopsy.Jacob Shaw (comics): Jacob Shaw is a fictional character in Marvel Comics, created by Ben Raab and Charlie Adlard. He is the father of Sebastian Shaw (the Black King of the Hellfire Club and enemy of the X-Men).Infinite alleles model: The infinite alleles model is a mathematical model for calculating genetic mutations. The Japanese geneticist Motoo Kimura and American geneticist James F.Coles Phillips