Parkinsonism and Tremor Complicating Long-term Cinitapride Use
نویسندگان
چکیده
In the evaluation of children with early foot deformities and delayed motor milestones without a significant history during birth and neonatal period, testing for FGD4, PRX, MTMR2, SBF2, SH3TC2, and GDAP1 was recommended by Baets et al.[1] The three most common genes associated with autosomal recessive CMT are GDAP1, SH3TC2, and HINT1, GDAP1 being the most frequent.[2,3] Mutations in the GDAP1 can occur with dominant and recessive inheritance patterns. The early onset and severe phenotype in the siblings with unaffected parents and negative family history suggest an autosomal recessive mode of inheritance. Since both parents showed early sensory axonopathy affecting the lower limbs, it may be appropriate to postulate that the demyelination seen in the siblings may be secondary to axonal degeneration.
منابع مشابه
Benign tremulous parkinsonism.
BACKGROUND Benign tremulous parkinsonism has never been precisely defined nor has the long-term course been studied. OBJECTIVE To report the clinical features and longitudinal course of patients with benign tremulous parkinsonism encountered in our movement disorders practice. DESIGN Computer search of medical records database. SETTING Mayo Clinic, Rochester, Minn. PATIENTS Of 116 patie...
متن کاملThalamic deep brain stimulation for tremor-predominant Parkinson's disease.
OBJECTIVES Determine the long-term efficacy of thalamic deep brain stimulation (DBS) for treatment of tremor among individuals with tremor-predominant Parkinson's disease (PD).Design. Longitudinal, unblinded assessment of tremor and activities of daily living (ADL) at baseline (pre-surgical), and post-operative intervals of 1, 3, and 12 months, and annually thereafter up to 3 years. METHODS A...
متن کاملThe Evolution of Long-term Care Programs; Comment on “Financing Long-term Care: Lessons From Japan”
The need for long-term care (LTC) represents a “new social risk,” one that overlaps with and complements systems of care that pre-date such programs, complicating LTC program design. This commentary expands on Ikegami’s discussion of how these structural factors must be accommodated, as well as historical and cultural factors that influence public expectations of such a...
متن کاملRelative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.
BACKGROUND Autosomal recessive juvenile parkinsonism is a neurodegenerative disorder associated with mutations in the parkin gene. OBJECTIVES To search for the presence of parkin gene mutations in Spanish patients with Parkinson's disease (PD) and characterise the phenotype associated with these mutations. METHODS Thirty seven PD patients with either early onset or autosomal recessive patte...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
دوره 20 شماره
صفحات -
تاریخ انتشار 2017