Clinical Trial Details
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NCT02588638 : Next Generation Sequencing Diagnostics - On the Road to Rapid Diagnostics for Rare Diseases
AgesMin: N/A Max: N/A
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

- 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

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
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