<unk>  can be diagnosed using a combination of molecular, clinical, and radiological findings. In order for individuals to develop<unk> , they must first be premutation carriers, having between 55-200 CGG trinucleotide repeat expansion of the FMR1 gene. A definite, probable, or possible diagnosis of<unk>  can be assigned based on combined clinical or radiological findings in conjunction with the molecular premutation. Clinical findings are divided into major and minor symptoms. Major symptoms include intention<unk>  and gait<unk> . Minor symptoms such as parkinsonism, short-term memory deficit, and executive function decline can further contribute to a diagnosis of<unk> . Radiological findings are similarly divided into major and minor categories. As patients with<unk>  can have distinct brain scans from other movement disorders, a scan showing white matter lesions of the middle cerebellar peduncle is a major finding that can be attributed to<unk> . Overall or generalized brain tissue atrophy and cerebral white matter lesions can also be minor indicators for a diagnosis. For a definite diagnosis to be made, a major radiological finding and one major clinical finding must be present. Probable diagnosis is based on the presence of either a major radiological finding and a minor clinical finding, or two major clinical findings alone. The possible category for diagnosis can be made with a minor radiological finding and a major clinical finding.
Fragile X-associated tremor/ataxia syndrome
X-linked dystonia parkinsonism
Huntington's disease-like syndrome
Fragile X syndrome
Rett syndrome
Dravet syndrome
Trichothiodystrophy
Parkinson-plus syndrome