F27 Clinical presentations in patient with 34 CAG-repeats (case report)

We represent a case report of clinical manifestation in patient with intermediate allele length of Htt gene. The patient M., 47 years old, suffered from low mood, tremor in hands, awkwardness, tearfulness and apathy from 2018. The patient’s working status – medical nurse. She didn’t have any familial history of HD, although her father died in 50 years old because of undetermined reason. In neurological status the patient had slight saccade velocity slowing, high latency in the speed of saccade initiation, Luria test – less than 4 repeats without hints, slight intentional and kinetic tremor, difficulty in tandem walking (2 deviations from the line). While walking the patient had some kind of dystonic pattern in neck with elevation of the right shoulder girdle. No choreic movements were found. She underwent genetic testing because of eye movement abnormalities that revealed 34 CAG-repeats. The patient’s UHDRS score was 11. M. underwent MOCA (26), SDMT (39 correct ), test for the speed of determining categories/animals (15 words), TMT A (66 ss), B (100 ss), test for the speed of determining letters for L (16 words), A (9 words) and S (13 words), Stroop test for reading (98 words), naming (80 words), interferention (40 words). According PBA-S the main psycho-emotional problems were depression (severity score – 3, frequency – 4), anxiety (2/2), apathy (3/3), obsessive-compulsive disorders (2/3). Functionally the patient was healthy. Comorbidities: keratoconus, astigmatism. After the treatment with sertraline 50 mg, she felt substantial relief with Beck’s depression scale score – 15. According modern data, in European ancestry populations, one in 5,372 individuals from the general population have intermediate allele expansion which result in the disease range during intergenerational transmission. This patient was recommended to follow-up and have a genetic counselling for the family with further decision about the treatment and prognosis.