Michaelides M, Wilkie SE, Jenkins S, Holder GE, Hunt DM, Moore AT, Webster AR. Mutation in the gene GUCA1A, encoding guanylate cyclase-activating protein 1, causes cone, cone-rod, and macular dystrophy. Ophthalmology. 2005;112:1442–1447. 29. [journals.lww.com]

In spinocerebellar ataxia type 17 (HDL4) it is affected TBP gene, located on the long arm of chromosome 6 (6q27). The TBP gene encoding the binding protein TATA, important for the development of normal brain function box. [ivami.com]

Focal thickening of the retinal pigment epithelium complex was present in the right eye (Fig. 4). Measurement of macular and global RNFL thickness was normal (Table 2). [journals.lww.com]

face, prominent narrow jaw, frontal bossing, malar flushing), and developmental delay/intellectual disability. [chginc.org]

Angers, France; Department of Ophthalmology (DM), Copenhagen University Hospital, Copenhagen, Denmark; and Singapore National Eye Centre and Singapore Eye Research Institute (DM), Singapore. [journals.lww.com]

The clinical phenotype is characterized by cerebellar ataxia with sensory neuropathy. We describe a five-generation family from northern Germany with similar clinical findings linked to the same locus. [ncbi.nlm.nih.gov]

Clinical description SCA4 typically starts in middle-aged adults and presents with cerebellar ataxia, pyramidal signs, and peripheral sensory loss. [orpha.net]

Overview When people discuss spinal cerebellar ataxia (SCA), they are actually referring to a group of neurodegenerative disorders that cause progressive clumsiness. [verywell.com]

Autosomal dominant cerebellar ataxias. Rev Neurol (Paris). 2011;167:385–400. 16. Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ. [journals.lww.com]

] 0001288 Motor deterioration Progressive degeneration of movement 0002333 5%-29% of people have these symptoms Motor axonal neuropathy 0007002 Sensory axonal neuropathy 0003390 Percent of people who have these symptoms is not available through HPO Areflexia [rarediseases.info.nih.gov]

(1–20) Also called Machado-Joseph disease (MJD) [11] Gaze-evoked nystagmus (a rapid, involuntary, oscillatory motion of the eyeball) upper motor neuron slow saccades Azores ( Portugal ) CAG repeat, 14q SCA4 ( PLEKHG4 ) 4th–7th decade (19–72) Decades areflexia [en.wikipedia.org]

Examination of lower and upper limb for reflex can also help to diagnosis because people will development areflexia or hyporeflexia in their limbs[3]. [neurowiki2013.wikidot.com]

Clinical features It is phenotypically similar to Friedreich ataxia (FRDA), with head titubation (28%), SCA, areflexia, and proprioception loss. Skin is affected by xanthelasmata and tendon xanthomas. [emedicine.medscape.com]

Relative values: Labyrinth preponderance 41% Nystagmus directional preponderance 36% (Jongkees formula) Absolute value: 24 /sec (hyperreflexia) and areflexia Relative values: Labyrinth preponderance 41% Nystagmus directional preponderance 36% (Jongkees [tinnitusjournal.com]

[…] not available through HPO Areflexia Absent tendon reflexes 0001284 Autosomal dominant inheritance 0000006 Babinski sign 0003487 Cerebellar atrophy Degeneration of cerebellum 0001272 Distal sensory impairment Decreased sensation in extremities 0002936 Hyporeflexia [rarediseases.info.nih.gov]

Postural and resting tremor Rigidity Cognitive impairment Cerebellar atrophy Spinocerebellar ataxia 22 See the list below: Clinical features Slowly progressive Gait and limb ataxia Hyporeflexia Dysarthria with scanning speech and dysphagia Intermittent [emedicine.medscape.com]

The difference in proportions test revealed a significant difference between bilateral vestibular hyporeflexia and the absence of rotational nystagmus (p 0.0138*). [tinnitusjournal.com]

Current clinical features Cerebellar features Cerebellar dysarthria, limb and truncal ataxia, slow saccades, wheelchair bound Cerebellar dysarthria, limb and truncal ataxia Saccadic speech, dysphagia, slow saccades, limb and truncal ataxia, titubation, hyporeflexia [movementdisorders.org]

Examination of lower and upper limb for reflex can also help to diagnosis because people will development areflexia or hyporeflexia in their limbs[3]. [neurowiki2013.wikidot.com]

29% of people have these symptoms Motor axonal neuropathy 0007002 Sensory axonal neuropathy 0003390 Percent of people who have these symptoms is not available through HPO Areflexia Absent tendon reflexes 0001284 Autosomal dominant inheritance 0000006 Babinski [rarediseases.info.nih.gov]

Clinical features Areflexia, proprioceptive dysfunction, loss of reflexes, and Babinski sign (prominent findings) By 5-10 years, gait disturbances and cerebellar signs Malabsorptive state in the early years with steatorrhea and abdominal distension Pes [emedicine.medscape.com]

Decreased reflexes [ more ] 0001265 Impaired smooth pursuit 0007772 Limb dysmetria 0002406 Progressive cerebellar ataxia 0002073 Sensory neuropathy Damage to nerves that sense feeling 0000763 Showing of 20 Last updated: 5/1/2019 Making a diagnosis for [rarediseases.info.nih.gov]