next generation sequencing diagnostics - on the road to rapid diagnostics for rare diseases

Conditions: Movement Disorder; Cognitive Decline

Summary: in the study, nextgen se are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions : primary: * number of diagnoses made by ngs secondary: 1. restriction of the quality of life by unclear disease 2. cost of not purposeful preliminary diagnostics ( beyond the minimal diagnostic data set ) 3. impact of the diagnosis to therapy and follow-up examinations 4. time to diagnosis

in the study nextgen se (single-center, prospective, open diagnostic study) are on-hand a cohort comprising each 50 pediatric and 50 adult patients, and in which there are an unclear movement disorder or an unclear cognitive disorder, examines the following questions: primary: * number of diagnoses made by next-generation sequencing (ngs) secondary: 1. restriction of the quality of life by unclear disease 2. cost of not purposeful preliminary diagnostics (beyond the minimal diagnostic data of the diagnosis to therapy and follow-up examinations 3. time to diagnosis

Eligibility criteria:
inclusion criteria: for patients\> 18 years 1. unclear movement disorder o progressive ataxia after minimal exclusion diagnostics: magnetic resonance tomography (mrt) (structural lesions such as cerebellar tumor, malformation) laboratory (vitamin b12, thyroid peroxidase (tpo) antibodies, glutamate decarboxylase (gad) ii-antibodies (ak) in medullary lesions: liquor exclusion friedreich ataxia (frda) and spinocerebellar ataxia type (sca)1-2-3-6 o progressive para-spasticity by minimal exclusion diagnostics: mrt neuro axis (structural lesions such as cervical myelopathy) laboratory (vitamin b12, human t-cell lymphotrophic virus ((htlv)-ak) in medullary lesions: liquor 2. unclear cognitive decline o after minimal exclusion diagnosis mrt (intracranial pressure, focal brain lesions explanatory) laboratory (thyroid-stimulating hormone (tsh), tpo-ak, antibody profile limbic encephalitis) liquor (inflammation, meningitis) electroencephalography (eeg) (status) exclusion chromosome 9 open reading frame 72 (c9orf72) for patients \<18 years patients with (penetrating) suspected cerebral neurogenetic diseases * unclear movement disorder (spasticity, ataxia, dyskinesia) * unclear cognitive disorder with probability of monogenic origin * fragile x syndrome (fra-x) at mentally retarded boy, friedreich ataxia (frda) with ataxia should be genetically excluded exclusion criteria: for patients \> 18 years 1. lack of consent 2. symptom onset \> 40 years of age 3. sudden, abrupt beginning 4. as early as previous history of genetic diagnosis using next-generation sequencing (ngs), also in the form of a panel for patients \<18 years 1. injury brain disorders * on the basis of imaging * on the basis of medical history (premature baby, hypoxic-ischemic encephalopathy) 2. inflammatory brain disorders * on the basis of imaging * on the basis of laboratory parameters (oligoclonal fractions, cerebrospinal fluid (csf) cell count increased) 3. light, isolated mental developmental disorder or behavioral disorder (rare monogenetic) - (less than 2 standard deviartion of normal or - \< 6 year olds - less than 1 year in development history back) 4. sudden , abrupt beginning 5. next-generation sequencing (ngs) also in the form of a panel

Keywords: ngs quality of life diagnosis rare disease next-generation sequencing